(used for mutation description)
(last modified July 12, 2013)
NOTE: exon numbering has been changed, the old exon 2 is
now exon 4. The APC gene variant database has a column with the old exon numbering.
This file was created to facilitate the description of sequence variants in the APC gene
based on a coding DNA reference sequence following the
HGVS recommendations. The sequence was taken from LRG_130 (RefSeqGene NG_008481.4,
part of NC_000005.9),
covering APC transcript variant-3 (
NM_000038.4, Ensembl ENST00000257430).
The APC gene has two alternative promoters/exons 1 designated 1A (exon 2 below) and 1B
(located 5' of 1A). Transcript variant-1 (NM_001127510.2)
contains an alternatively spliced exon 3 (located in
intron 2). Transcript variant-2 (NM_001127511.2)
uses promoter/exon 1b and does not contain exon 3
(intron 2) and exon 4 (transcript NM_001127511.1 did contain exon 3).
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . g.50363
gtattggtgcagcccgccagggtgt c.-61
. . . . . | 04 . g.67370
cactggagacagaatggaggtgctgccggactcggaaatggg | gtccaagggtagccaagg c.-1
^ alternatively spliced exon 3
. . . . . . g.67430
ATGGCTGCAGCTTCATATGATCAGTTGTTAAAGCAAGTTGAGGCACTGAAGATGGAGAAC c.60
M A A A S Y D Q L L K Q V E A L K M E N p.20
. . . . . . g.67490
TCAAATCTTCGACAAGAGCTAGAAGATAATTCCAATCATCTTACAAAACTGGAAACTGAG c.120
S N L R Q E L E D N S N H L T K L E T E p.40
. | 05 . . . . . g.78850
GCATCTAATATGAAG | GAAGTACTTAAACAACTACAAGGAAGTATTGAAGATGAAGCTATG c.180
A S N M K | E V L K Q L Q G S I E D E A M p.60
. . . . | 06 . . g.79688
GCTTCTTCTGGACAGATTGATTTATTAGAGCGTCTTAAAG | AGCTTAACTTAGATAGCAGT c.240
A S S G Q I D L L E R L K E | L N L D S S p.80
. . . . . . g.79748
AATTTCCCTGGAGTAAAACTGCGGTCAAAAATGTCCCTCCGTTCTTATGGAAGCCGGGAA c.300
N F P G V K L R S K M S L R S Y G S R E p.100
. . . . . . g.79808
GGATCTGTATCAAGCCGTTCTGGAGAGTGCAGTCCTGTTCCTATGGGTTCATTTCCAAGA c.360
G S V S S R S G E C S P V P M G S F P R p.120
. . . . . . g.79868
AGAGGGTTTGTAAATGGAAGCAGAGAAAGTACTGGATATTTAGAAGAACTTGAGAAAGAG c.420
R G F V N G S R E S T G Y L E E L E K E p.140
| 07 . . . . . . g.88166
AG | GTCATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCT c.480
R | S L L L A D L D K E E K E K D W Y Y A p.160
. . . . . | 08 . g.93278
CAACTTCAGAATCTCACTAAAAGAATAGATAGTCTTCCTTTAACTGAAAAT | TTTTCCTTA c.540
Q L Q N L T K R I D S L P L T E N | F S L p.180
. . . . . . g.93338
CAAACAGATATGACCAGAAGGCAATTGGAATATGAAGCAAGGCAAATCAGAGTTGCGATG c.600
Q T D M T R R Q L E Y E A R Q I R V A M p.200
. . . . | 09 . . g.104940
GAAGAACAACTAGGTACCTGCCAGGATATGGAAAAACGAGCACAG | CGAAGAATAGCCAGA c.660
E E Q L G T C Q D M E K R A Q | R R I A R p.220
. . . . . . g.105000
ATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACA c.720
I Q Q I E K D I L R I R Q L L Q S Q A T p.240
| 10 . . . . . g.113809
GAAGCAGAG | AGGTCATCTCAGAACAAGCATGAAACCGGCTCACATGATGCTGAGCGGCAG c.780
E A E | R S S Q N K H E T G S H D A E R Q p.260
. . . . . | 11 . g.127980
AATGAAGGTCAAGGAGTGGGAGAAATCAACATGGCAACTTCTGGTAATGGTCAG | GGTTCA c.840
N E G Q G V G E I N M A T S G N G Q | G S p.280
. . . . . . g.128040
ACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCA c.900
T T R M D H E T A S V L S S S S T H S A p.300
. . . | 12 . . . g.131472
CCTCGAAGGCTGACAAGTCATCTGGGAACCAAG | GTGGAAATGGTGTATTCATTGTTGTCA c.960
P R R L T S H L G T K | V E M V Y S L L S p.320
. . . . . . g.131532
ATGCTTGGTACTCATGATAAGGATGATATGTCGCGAACTTTGCTAGCTATGTCTAGCTCC c.1020
M L G T H D K D D M S R T L L A M S S S p.340
. . . . . . g.131592
CAAGACAGCTGTATATCCATGCGACAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTA c.1080
Q D S C I S M R Q S G C L P L L I Q L L p.360
. . . . . . g.131652
CATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG c.1140
H G N D K D S V L L G N S R G S K E A R p.380
. . . . . . g.131712
GCCAGGGCCAGTGCAGCACTCCACAACATCATTCACTCACAGCCTGATGACAAGAGAGGC c.1200
A R A S A A L H N I I H S Q P D D K R G p.400
. . . . . . g.131772
AGGCGTGAAATCCGAGTCCTTCATCTTTTGGAACAGATACGCGCTTACTGTGAAACCTGT c.1260
R R E I R V L H L L E Q I R A Y C E T C p.420
. . . . . | 13 . g.134383
TGGGAGTGGCAGGAAGCTCATGAACCAGGCATGGACCAGGACAAAAATCCAA | TGCCAGCT c.1320
W E W Q E A H E P G M D Q D K N P M | P A p.440
. . . . . . g.134443
CCTGTTGAACATCAGATCTGTCCTGCTGTGTGTGTTCTAATGAAACTTTCATTTGATGAA c.1380
P V E H Q I C P A V C V L M K L S F D E p.460
. . | 14 . . . g.139619
GAGCATAGACATGCAATGAATGAACTAG | GGGGACTACAGGCCATTGCAGAATTATTGCAA c.1440
E H R H A M N E L G | G L Q A I A E L L Q p.480
. . . . . . g.139679
GTGGACTGTGAAATGTATGGGCTTACTAATGACCACTACAGTATTACACTAAGACGATAT c.1500
V D C E M Y G L T N D H Y S I T L R R Y p.500
. . . . | 15 . g.140420
GCTGGAATGGCTTTGACAAACTTGACTTTTGGAGATGTAGCCAACAAG | GCTACGCTATGC c.1560
A G M A L T N L T F G D V A N K | A T L C p.520
. . . . . . g.140480
TCTATGAAAGGCTGCATGAGAGCACTTGTGGCCCAACTAAAATCTGAAAGTGAAGACTTA c.1620
S M K G C M R A L V A Q L K S E S E D L p.540
| 16 . . . . . . g.141389
CAGCAG | GTTATTGCGAGTGTTTTGAGGAATTTGTCTTGGCGAGCAGATGTAAATAGTAAA c.1680
Q Q | V I A S V L R N L S W R A D V N S K p.560
. . . . . . g.141449
AAGACGTTGCGAGAAGTTGGAAGTGTGAAAGCATTGATGGAATGTGCTTTAGAAGTTAAA c.1740
K T L R E V G S V K A L M E C A L E V K p.580
| 17 . . . . . . g.147487
AAG | GAATCAACCCTCAAAAGCGTATTGAGTGCCTTATGGAATTTGTCAGCACATTGCACT c.1800
K | E S T L K S V L S A L W N L S A H C T p.600
. . . . . . g.147547
GAGAATAAAGCTGATATATGTGCTGTAGATGGTGCACTTGCATTTTTGGTTGGCACTCTT c.1860
E N K A D I C A V D G A L A F L V G T L p.620
. . . . . . g.147607
ACTTACCGGAGCCAGACAAACACTTTAGCCATTATTGAAAGTGGAGGTGGGATATTACGG c.1920
T Y R S Q T N T L A I I E S G G G I L R p.640
. . . | 18 . . g.150054
AATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAG | GCAAATCCTAAGAGAGAACAAC c.1980
N V S S L I A T N E D H R | Q I L R E N N p.660
. . . . . . g.150114
TGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCA c.2040
C L Q T L L Q H L K S H S L T I V S N A p.680
. . . . . . g.150174
TGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGAC c.2100
C G T L W N L S A R N P K D Q E A L W D p.700
. . . . . . g.150234
ATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATG c.2160
M G A V S M L K N L I H S K H K M I A M p.720
. . . . . . g.150294
GGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCC c.2220
G S A A A L R N L M A N R P A K Y K D A p.740
. . . . . . g.150354
AATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTA c.2280
N I M S P G S S L P S L H V R K Q K A L p.760
. . . . . . g.150414
GAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGT c.2340
E A E L D A Q H L S E T F D N I D N L S p.780
. . . . . . g.150474
CCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTT c.2400
P K A S H R S K Q R H K Q S L Y G D Y V p.800
. . . . . . g.150534
TTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACT c.2460
F D T N R H D D N R S D N F N T G N M T p.820
. . . . . . g.150594
GTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGC c.2520
V L S P Y L N T T V L P S S S S S R G S p.840
. . . . . . g.150654
TTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTA c.2580
L D S S R S E K D R S L E R E R G I G L p.860
. . . . . . g.150714
GGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATC c.2640
G N Y H P A T E N P G T S S K R G L Q I p.880
. . . . . . g.150774
TCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCT c.2700
S T T A A Q I A K V M E E V S A I H T S p.900
. . . . . . g.150834
CAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAAT c.2760
Q E D R S S G S T T E L H C V T D E R N p.920
. . . . . . g.150894
GCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCG c.2820
A L R R S S A A H T H S N T Y N F T K S p.940
. . . . . . g.150954
GAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCA c.2880
E N S N R T C S M P Y A K L E Y K R S S p.960
. . . . . . g.151014
AATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAA c.2940
N D S L N S V S S S D G Y G K R G Q M K p.980
. . . . . . g.151074
CCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATAC c.3000
P S I E S Y S E D D E S K F C S Y G Q Y p.1000
. . . . . . g.151134
CCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAA c.3060
P A D L A H K I H S A N H M D D N D G E p.1020
. . . . . . g.151194
CTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGG c.3120
L D T P I N Y S L K Y S D E Q L N S G R p.1040
. . . . . . g.151254
CAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATA c.3180
Q S P S Q N E R W A R P K H I I E D E I p.1060
. . . . . . g.151314
AAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAG c.3240
K Q S E Q R Q S R N Q S T T Y P V Y T E p.1080
. . . . . . g.151374
AGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCT c.3300
S T D D K H L K F Q P H F G Q Q E C V S p.1100
. . . . . . g.151434
CCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGA c.3360
P Y R S R G A N G S E T N R V G S N H G p.1120
. . . . . . g.151494
ATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCT c.3420
I N Q N V S Q S L C Q E D D Y E D D K P p.1140
. . . . . . g.151554
ACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACA c.3480
T N Y S E R Y S E E E Q H E E E E R P T p.1160
. . . . . . g.151614
AATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGT c.3540
N Y S I K Y N E E K R H V D Q P I D Y S p.1180
. . . . . . g.151674
TTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGT c.3600
L K Y A T D I P S S Q K Q S F S F S K S p.1200
. . . . . . g.151734
TCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACA c.3660
S S G Q S S K T E H M S S S S E N T S T p.1220
. . . . . . g.151794
CCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGT c.3720
P S S N A K R Q N Q L H P S S A Q S R S p.1240
. . . . . . g.151854
GGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAG c.3780
G Q P Q K A A T C K V S S I N Q E T I Q p.1260
. . . . . . g.151914
ACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTG c.3840
T Y C V E D T P I C F S R C S S L S S L p.1280
. . . . . . g.151974
TCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAAT c.3900
S S A E D E I G C N Q T T Q E A D S A N p.1300
. . . . . . g.152034
ACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTG c.3960
T L Q I A E I K E K I G T R S A E D P V p.1320
. . . . . . g.152094
AGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCT c.4020
S E V P A V S Q H P R T K S S R L Q G S p.1340
. . . . . . g.152154
AGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCT c.4080
S L S S E S A R H K A V E F S S G A K S p.1360
. . . . . . g.152214
CCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACC c.4140
P S K S G A Q T P K S P P E H Y V Q E T p.1380
. . . . . . g.152274
CCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCG c.4200
P L M F S R C T S V S S L D S F E S R S p.1400
. . . . . . g.152334
ATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCC c.4260
I A S S V Q S E P C S G M V S G I I S P p.1420
. . . . . . g.152394
AGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCA c.4320
S D L P D S P G Q T M P P S R S K T P P p.1440
. . . . . . g.152454
CCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCT c.4380
P P P Q T A Q T K R E V P K N K A P T A p.1460
. . . . . . g.152514
GAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAG c.4440
E K R E S G P K Q A A V N A A V Q R V Q p.1480
. . . . . . g.152574
GTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTT c.4500
V L P D A D T L L H F A T E S T P D G F p.1500
. . . . . . g.152634
TCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTG c.4560
S C S S S L S A L S L D E P F I Q K D V p.1520
. . . . . . g.152694
GAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAG c.4620
E L R I M P P V Q E N D N G N E T E S E p.1540
. . . . . . g.152754
CAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAA c.4680
Q P K E S N E N Q E K E A E K T I D S E p.1560
. . . . . . g.152814
AAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATT c.4740
K D L L D D S D D D D I E I L E E C I I p.1580
. . . . . . g.152874
TCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAA c.4800
S A M P T K S S R K A K K P A Q T A S K p.1600
. . . . . . g.152934
TTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCA c.4860
L P P P V A R K P S Q L P V Y K L L P S p.1620
. . . . . . g.152994
CAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGG c.4920
Q N R L Q P Q K H V S F T P G D D M P R p.1640
. . . . . . g.153054
GTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTA c.4980
V Y C V E G T P I N F S T A T S L S D L p.1660
. . . . . . g.153114
ACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAG c.5040
T I E S P P N E L A A G E G V R G G A Q p.1680
. . . . . . g.153174
TCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCT c.5100
S G E F E K R D T I P T E G R S T D E A p.1700
. . . . . . g.153234
CAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAA c.5160
Q G G K T S S V T I P E L D D N K A E E p.1720
. . . . . . g.153294
GGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCT c.5220
G D I L A E C I N S A M P K G K S H K P p.1740
. . . . . . g.153354
TTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCC c.5280
F R V K K I M D Q V Q Q A S A S S S A P p.1760
. . . . . . g.153414
AACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCA c.5340
N K N Q L D G K K K K P T S P V K P I P p.1780
. . . . . . g.153474
CAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAAT c.5400
Q N T E Y R T R V R K N A D S K N N L N p.1800
. . . . . . g.153534
GCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCC c.5460
A E R V F S D N K D S K K Q N L K N N S p.1820
. . . . . . g.153594
AAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTT c.5520
K V F N D K L P N N E D R V R G S F A F p.1840
. . . . . . g.153654
GATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGAT c.5580
D S P H H Y T P I E G T P Y C F S R N D p.1860
. . . . . . g.153714
TCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAA c.5640
S L S S L D F D D D D V D L S R E K A E p.1880
. . . . . . g.153774
TTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTA c.5700
L R K A K E N K E S E A K V T S H T E L p.1900
. . . . . . g.153834
ACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGA c.5760
T S N Q Q S A N K T Q A I A K Q P I N R p.1920
. . . . . . g.153894
GGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATA c.5820
G Q P K P I L Q K Q S T F P Q S S K D I p.1940
. . . . . . g.153954
CCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCG c.5880
P D R G A A T D E K L Q N F A I E N T P p.1960
. . . . . . g.154014
GTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAAC c.5940
V C F S H N S S L S S L S D I D Q E N N p.1980
. . . . . . g.154074
AATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGT c.6000
N K E N E P I K E T E P P D S Q G E P S p.2000
. . . . . . g.154134
AAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGT c.6060
K P Q A S G Y A P K S F H V E D T P V C p.2020
. . . . . . g.154194
TTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGTATTGACTCTGAAGATGACCTGTTGCAG c.6120
F S R N S S L S S L S I D S E D D L L Q p.2040
. . . . . . g.154254
GAATGTATAAGCTCCGCAATGCCAAAAAAGAAAAAGCCTTCAAGACTCAAGGGTGATAAT c.6180
E C I S S A M P K K K K P S R L K G D N p.2060
. . . . . . g.154314
GAAAAACATAGTCCCAGAAATATGGGTGGCATATTAGGTGAAGATCTGACACTTGATTTG c.6240
E K H S P R N M G G I L G E D L T L D L p.2080
. . . . . . g.154374
AAAGATATACAGAGACCAGATTCAGAACATGGTCTATCCCCTGATTCAGAAAATTTTGAT c.6300
K D I Q R P D S E H G L S P D S E N F D p.2100
. . . . . . g.154434
TGGAAAGCTATTCAGGAAGGTGCAAATTCCATAGTAAGTAGTTTACATCAAGCTGCTGCT c.6360
W K A I Q E G A N S I V S S L H Q A A A p.2120
. . . . . . g.154494
GCTGCATGTTTATCTAGACAAGCTTCGTCTGATTCAGATTCCATCCTTTCCCTGAAATCA c.6420
A A C L S R Q A S S D S D S I L S L K S p.2140
. . . . . . g.154554
GGAATCTCTCTGGGATCACCATTTCATCTTACACCTGATCAAGAAGAAAAACCCTTTACA c.6480
G I S L G S P F H L T P D Q E E K P F T p.2160
. . . . . . g.154614
AGTAATAAAGGCCCACGAATTCTAAAACCAGGGGAGAAAAGTACATTGGAAACTAAAAAG c.6540
S N K G P R I L K P G E K S T L E T K K p.2180
. . . . . . g.154674
ATAGAATCTGAAAGTAAAGGAATCAAAGGAGGAAAAAAAGTTTATAAAAGTTTGATTACT c.6600
I E S E S K G I K G G K K V Y K S L I T p.2200
. . . . . . g.154734
GGAAAAGTTCGATCTAATTCAGAAATTTCAGGCCAAATGAAACAGCCCCTTCAAGCAAAC c.6660
G K V R S N S E I S G Q M K Q P L Q A N p.2220
. . . . . . g.154794
ATGCCTTCAATCTCTCGAGGCAGGACAATGATTCATATTCCAGGAGTTCGAAATAGCTCC c.6720
M P S I S R G R T M I H I P G V R N S S p.2240
. . . . . . g.154854
TCAAGTACAAGTCCTGTTTCTAAAAAAGGCCCACCCCTTAAGACTCCAGCCTCCAAAAGC c.6780
S S T S P V S K K G P P L K T P A S K S p.2260
. . . . . . g.154914
CCTAGTGAAGGTCAAACAGCCACCACTTCTCCTAGAGGAGCCAAGCCATCTGTGAAATCA c.6840
P S E G Q T A T T S P R G A K P S V K S p.2280
. . . . . . g.154974
GAATTAAGCCCTGTTGCCAGGCAGACATCCCAAATAGGTGGGTCAAGTAAAGCACCTTCT c.6900
E L S P V A R Q T S Q I G G S S K A P S p.2300
. . . . . . g.155034
AGATCAGGATCTAGAGATTCGACCCCTTCAAGACCTGCCCAGCAACCATTAAGTAGACCT c.6960
R S G S R D S T P S R P A Q Q P L S R P p.2320
. . . . . . g.155094
ATACAGTCTCCTGGCCGAAACTCAATTTCCCCTGGTAGAAATGGAATAAGTCCTCCTAAC c.7020
I Q S P G R N S I S P G R N G I S P P N p.2340
. . . . . . g.155154
AAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAACTAAGTCCTCAGGT c.7080
K L S Q L P R T S S P S T A S T K S S G p.2360
. . . . . . g.155214
TCTGGAAAAATGTCATATACATCTCCAGGTAGACAGATGAGCCAACAGAACCTTACCAAA c.7140
S G K M S Y T S P G R Q M S Q Q N L T K p.2380
. . . . . . g.155274
CAAACAGGTTTATCCAAGAATGCCAGTAGTATTCCAAGAAGTGAGTCTGCCTCCAAAGGA c.7200
Q T G L S K N A S S I P R S E S A S K G p.2400
. . . . . . g.155334
CTAAATCAGATGAATAATGGTAATGGAGCCAATAAAAAGGTAGAACTTTCTAGAATGTCT c.7260
L N Q M N N G N G A N K K V E L S R M S p.2420
. . . . . . g.155394
TCAACTAAATCAAGTGGAAGTGAATCTGATAGATCAGAAAGACCTGTATTAGTACGCCAG c.7320
S T K S S G S E S D R S E R P V L V R Q p.2440
. . . . . . g.155454
TCAACTTTCATCAAAGAAGCTCCAAGCCCAACCTTAAGAAGAAAATTGGAGGAATCTGCT c.7380
S T F I K E A P S P T L R R K L E E S A p.2460
. . . . . . g.155514
TCATTTGAATCTCTTTCTCCATCATCTAGACCAGCTTCTCCCACTAGGTCCCAGGCACAA c.7440
S F E S L S P S S R P A S P T R S Q A Q p.2480
. . . . . . g.155574
ACTCCAGTTTTAAGTCCTTCCCTTCCTGATATGTCTCTATCCACACATTCGTCTGTTCAG c.7500
T P V L S P S L P D M S L S T H S S V Q p.2500
. . . . . . g.155634
GCTGGTGGATGGCGAAAACTCCCACCTAATCTCAGTCCCACTATAGAGTATAATGATGGA c.7560
A G G W R K L P P N L S P T I E Y N D G p.2520
. . . . . . g.155694
AGACCAGCAAAGCGCCATGATATTGCACGGTCTCATTCTGAAAGTCCTTCTAGACTTCCA c.7620
R P A K R H D I A R S H S E S P S R L P p.2540
. . . . . . g.155754
ATCAATAGGTCAGGAACCTGGAAACGTGAGCACAGCAAACATTCATCATCCCTTCCTCGA c.7680
I N R S G T W K R E H S K H S S S L P R p.2560
. . . . . . g.155814
GTAAGCACTTGGAGAAGAACTGGAAGTTCATCTTCAATTCTTTCTGCTTCATCAGAATCC c.7740
V S T W R R T G S S S S I L S A S S E S p.2580
. . . . . . g.155874
AGTGAAAAAGCAAAAAGTGAGGATGAAAAACATGTGAACTCTATTTCAGGAACCAAACAA c.7800
S E K A K S E D E K H V N S I S G T K Q p.2600
. . . . . . g.155934
AGTAAAGAAAACCAAGTATCCGCAAAAGGAACATGGAGAAAAATAAAAGAAAATGAATTT c.7860
S K E N Q V S A K G T W R K I K E N E F p.2620
. . . . . . g.155994
TCTCCCACAAATAGTACTTCTCAGACCGTTTCCTCAGGTGCTACAAATGGTGCTGAATCA c.7920
S P T N S T S Q T V S S G A T N G A E S p.2640
. . . . . . g.156054
AAGACTCTAATTTATCAAATGGCACCTGCTGTTTCTAAAACAGAGGATGTTTGGGTGAGA c.7980
K T L I Y Q M A P A V S K T E D V W V R p.2660
. . . . . . g.156114
ATTGAGGACTGTCCCATTAACAATCCTAGATCTGGAAGATCTCCCACAGGTAATACTCCC c.8040
I E D C P I N N P R S G R S P T G N T P p.2680
. . . . . . g.156174
CCGGTGATTGACAGTGTTTCAGAAAAGGCAAATCCAAACATTAAAGATTCAAAAGATAAT c.8100
P V I D S V S E K A N P N I K D S K D N p.2700
. . . . . . g.156234
CAGGCAAAACAAAATGTGGGTAATGGCAGTGTTCCCATGCGTACCGTGGGTTTGGAAAAT c.8160
Q A K Q N V G N G S V P M R T V G L E N p.2720
. . . . . . g.156294
CGCCTGAACTCCTTTATTCAGGTGGATGCCCCTGACCAAAAAGGAACTGAGATAAAACCA c.8220
R L N S F I Q V D A P D Q K G T E I K P p.2740
. . . . . . g.156354
GGACAAAATAATCCTGTCCCTGTATCAGAGACTAATGAAAGTTCTATAGTGGAACGTACC c.8280
G Q N N P V P V S E T N E S S I V E R T p.2760
. . . . . . g.156414
CCATTCAGTTCTAGCAGCTCAAGCAAACACAGTTCACCTAGTGGGACTGTTGCTGCCAGA c.8340
P F S S S S S S K H S S P S G T V A A R p.2780
. . . . . . g.156474
GTGACTCCTTTTAATTACAACCCAAGCCCTAGGAAAAGCAGCGCAGATAGCACTTCAGCT c.8400
V T P F N Y N P S P R K S S A D S T S A p.2800
. . . . . . g.156534
CGGCCATCTCAGATCCCAACTCCAGTGAATAACAACACAAAGAAGCGAGATTCCAAAACT c.8460
R P S Q I P T P V N N N T K K R D S K T p.2820
. . . . . . g.156594
GACAGCACAGAATCCAGTGGAACCCAAAGTCCTAAGCGCCATTCTGGGTCTTACCTTGTG c.8520
D S T E S S G T Q S P K R H S G S Y L V p.2840
. g.156606
ACATCTGTTTAA c.8532
T S V X p.2843
. . . . . . g.156666
aagagaggaagaatgaaactaagaaaattctatgttaattacaactgctatatagacatt c.*60
. . . . . . g.156726
ttgtttcaaatgaaactttaaaagactgaaaaattttgtaaataggtttgattcttgtta c.*120
. . . . . . g.156786
gagggtttttgttctggaagccatatttgatagtatactttgtcttcactggtcttattt c.*180
. . . . . . g.156846
tgggaggcactcttgatggttaggaaaaaaatagtaaagccaagtatgtttgtacagtat c.*240
. . . . . . g.156906
gttttacatgtatttaaagtagcatcccatcccaacttcctttaattattgcttgtctta c.*300
. . . . . . g.156966
aaataatgaacactacagatagaaaatatgatatattgctgttatcaatcatttctagat c.*360
. . . . . . g.157026
tataaactgactaaacttacatcagggaaaaattggtatttatgcaaaaaaaaatgtttt c.*420
. . . . . . g.157086
tgtccttgtgagtccatctaacatcataattaatcatgtggctgtgaaattcacagtaat c.*480
. . . . . . g.157146
atggttcccgatgaacaagtttacccagcctgctttgctttactgcatgaatgaaactga c.*540
. . . . . . g.157206
tggttcaatttcagaagtaatgattaacagttatgtggtcacatgatgtgcatagagata c.*600
. . . . . . g.157266
gctacagtgtaataatttacactattttgtgctccaaacaaaacaaaaatctgtgtaact c.*660
. . . . . . g.157326
gtaaaacattgaatgaaactattttacctgaactagattttatctgaaagtaggtagaat c.*720
. . . . . . g.157386
ttttgctatgctgtaatttgttgtatattctggtatttgaggtgagatggctgctctttt c.*780
. . . . . . g.157446
attaatgagacatgaattgtgtctcaacagaaactaaatgaacatttcagaataaattat c.*840
. . . . . . g.157506
tgctgtatgtaaactgttactgaaattggtatttgtttgaagggtcttgtttcacatttg c.*900
. . . . . . g.157566
tattaataattgtttaaaatgcctcttttaaaagcttatataaatttttttcttcagctt c.*960
. . . . . . g.157626
ctatgcattaagagtaaaattcctcttactgtaataaaaacaattgaagaagactgttgc c.*1020
. . . . . . g.157686
cacttaaccattccatgcgttggcacttatctattcctgaaatttcttttatgtgattag c.*1080
. . . . . . g.157746
ctcatcttgatttttaatatttttccacttaaacttttttttcttactccactggagctc c.*1140
. . . . . . g.157806
agtaaaagtaaattcatgtaatagcaatgcaagcagcctagcacagactaagcattgagc c.*1200
. . . . . . g.157866
ataataggcccacataatttcctctttcttaatattatagaattctgtacttgaaattga c.*1260
. . . . . . g.157926
ttcttagacattgcagtctcttcgaggctttacagtgtaaactgtcttgccccttcatct c.*1320
. . . . . . g.157986
tcttgttgcaactgggtctgacatgaacactttttatcaccctgtatgttagggcaagat c.*1380
. . . . . . g.158046
ctcagcagtgaagtataatcagcactttgccatgctcagaaaattcaaatcacatggaac c.*1440
. . . . . . g.158106
tttagaggtagatttaatacgattaagatattcagaagtatattttagaatccctgcctg c.*1500
. . . . . . g.158166
ttaaggaaactttatttgtggtaggtacagttctggggtacatgttaagtgtccccttat c.*1560
. . . . . . g.158226
acagtggagggaagtcttccttcctgaaggaaaataaactgacacttattaactaagata c.*1620
. . . . . . g.158286
atttacttaatatatcttccctgatttgttttaaaagatcagagggtgactgatgataca c.*1680
. . . . . . g.158346
tgcatacatatttgttgaataaatgaaaatttatttttagtgataagattcatacactct c.*1740
. . . . . . g.158406
gtatttggggagggaaaacctttttaagcatggtggggcactcagataggagtgaataca c.*1800
. . . . . . g.158466
cctacctggtgccttgaaaatcacatcaagtagttaattatctaccccttacctgtgttt c.*1860
. . . . . . g.158526
ataacttccaggtaatgagaatgattttttttaaagctaaaatgccagtaaataaaagtg c.*1920
. . . . . . g.158586
ctatgacttgagctaagatatttgactccaatgcctgtactgtgtctactgcaccacttt c.*1980
. . . . . . g.158646
gtaaacacttcaatttactatctttgaaatgattgacctttaaatttttgccaaatgtta c.*2040
. . . . . . g.158706
tctgaaattgtctatgaataccatctacttctgttgttttcccaggcttccataaacaat c.*2100
. g.158719
ggagatacatgca c.*2113
(downstream sequence)
style="font-size : 15px;">
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right
of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every
10th nucleotide is indicated by a "." above the sequence. The
Adenomatous Polyposis Coli protein sequence is shown below the coding DNA sequence, with
numbering indicated at the right starting with 1 for the translation initiating
Methionine. Every 10th amino acid is shown in bold. The position of introns is
indicated by a vertical line, splitting the two exons. The start of the first exon
(transcription initiation site) is indicated by a '\', the end of the last exon (poly-A
addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the
exon. To aid the description of frame shift mutations, all stop codons in the +1 frame
are shown in bold while all stop codons in the +2 frame are underlined.
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