(used for variant description)
(last modified December 24, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_002821.4 in the PTK7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering PTK7 transcript NM_002821.4.
(upstream sequence)
. . . . g.5041
ggcggggcttggcggcggcggcggcggcgcgcggggactcg c.-181
. . . . . . g.5101
gaggtactgggcgcgcgcggctccggctcgggacgcctcgggacgcctcggggtcgggct c.-121
. . . . . . g.5161
ccggctgcggctgctgctgcggcgcccgcgctccggtgcgctccgcctcctgtgcccgcc c.-61
. . . . . . g.5221
gcggagcgcagtctgcgcgcccgccgtgcgccctcagctccttttcctgagcccgccgcg c.-1
. . . . . . g.5281
ATGGGAGCTGCGCGGGGATCCCCGGCCAGACCCCGCCGGTTGCCTCTGCTCAGCGTCCTG c.60
M G A A R G S P A R P R R L P L L S V L p.20
. | 02 . . . . g.57750
CTGCTGCCGCTGCTGGGCG | GTACCCAGACAGCCATTGTCTTCATCAAGCAGCCGTCCTCC c.120
L L P L L G G | T Q T A I V F I K Q P S S p.40
. . . . . . g.57810
CAGGATGCACTGCAGGGGCGCCGGGCGCTGCTTCGCTGTGAGGTTGAGGCTCCGGGCCCG c.180
Q D A L Q G R R A L L R C E V E A P G P p.60
. . . . . . g.57870
GTACATGTGTACTGGCTGCTCGATGGGGCCCCTGTCCAGGACACGGAGCGGCGTTTCGCC c.240
V H V Y W L L D G A P V Q D T E R R F A p.80
. . . . . . g.57930
CAGGGCAGCAGCCTGAGCTTTGCAGCTGTGGACCGGCTGCAGGACTCTGGCACCTTCCAG c.300
Q G S S L S F A A V D R L Q D S G T F Q p.100
. . . . . . g.57990
TGTGTGGCTCGGGATGATGTCACTGGAGAAGAAGCCCGCAGTGCCAACGCCTCCTTCAAC c.360
C V A R D D V T G E E A R S A N A S F N p.120
| 03. . . . . . g.58512
ATCAAAT | GGATTGAGGCAGGTCCTGTGGTCCTGAAGCATCCAGCCTCGGAAGCTGAGATC c.420
I K W | I E A G P V V L K H P A S E A E I p.140
. . . . . | 04 . g.58972
CAGCCACAGACCCAGGTCACACTTCGTTGCCACATTGATGGGCACCCTCG | GCCCACCTAC c.480
Q P Q T Q V T L R C H I D G H P R | P T Y p.160
. . . . . . g.59032
CAATGGTTCCGAGATGGGACCCCCCTTTCTGATGGTCAGAGCAACCACACAGTCAGCAGC c.540
Q W F R D G T P L S D G Q S N H T V S S p.180
. . . . . . g.59092
AAGGAGCGGAACCTGACGCTCCGGCCAGCTGGTCCTGAGCATAGTGGGCTGTATTCCTGC c.600
K E R N L T L R P A G P E H S G L Y S C p.200
. . . . . . g.59152
TGCGCCCACAGTGCTTTTGGCCAGGCTTGCAGCAGCCAGAACTTCACCTTGAGCATTGCT c.660
C A H S A F G Q A C S S Q N F T L S I A p.220
| 05 . . . . . . g.59302
G | ATGAAAGCTTTGCCAGGGTGGTGCTGGCACCCCAGGACGTGGTAGTAGCGAGGTATGAG c.720
D | E S F A R V V L A P Q D V V V A R Y E p.240
. . . . . . g.59362
GAGGCCATGTTCCATTGCCAGTTCTCAGCCCAGCCACCCCCGAGCCTGCAGTGGCTCTTT c.780
E A M F H C Q F S A Q P P P S L Q W L F p.260
. . . | 06 . . . g.60776
GAGGATGAGACTCCCATCACTAACCGCAGTCG | CCCCCCACACCTCCGCAGAGCCACAGTG c.840
E D E T P I T N R S R | P P H L R R A T V p.280
. . . . . . g.60836
TTTGCCAACGGGTCTCTGCTGCTGACCCAGGTCCGGCCACGCAATGCAGGGATCTACCGC c.900
F A N G S L L L T Q V R P R N A G I Y R p.300
. . . . . . g.60896
TGCATTGGCCAGGGGCAGAGGGGCCCACCCATCATCCTGGAAGCCACACTTCACCTAGCA c.960
C I G Q G Q R G P P I I L E A T L H L A p.320
| 07 . . . . . . g.61212
G | AGATTGAAGACATGCCGCTATTTGAGCCACGGGTGTTTACAGCTGGCAGCGAGGAGCGT c.1020
E | I E D M P L F E P R V F T A G S E E R p.340
. . . . . . g.61272
GTGACCTGCCTTCCCCCCAAGGGTCTGCCAGAGCCCAGCGTGTGGTGGGAGCACGCGGGA c.1080
V T C L P P K G L P E P S V W W E H A G p.360
. . . . . . g.61332
GTCCGGCTGCCCACCCATGGCAGGGTCTACCAGAAGGGCCACGAGCTGGTGTTGGCCAAT c.1140
V R L P T H G R V Y Q K G H E L V L A N p.380
. . . . . . g.61392
ATTGCTGAAAGTGATGCTGGTGTCTACACCTGCCACGCGGCCAACCTGGCTGGTCAGCGG c.1200
I A E S D A G V Y T C H A A N L A G Q R p.400
. . | 08 . . . g.67613
AGACAGGATGTCAACATCACTGTGGCCA | CTGTGCCCTCCTGGCTGAAGAAGCCCCAAGAC c.1260
R Q D V N I T V A T | V P S W L K K P Q D p.420
. . . . . . g.67673
AGCCAGCTGGAGGAGGGCAAACCCGGCTACTTGGATTGCCTGACCCAGGCCACACCAAAA c.1320
S Q L E E G K P G Y L D C L T Q A T P K p.440
. . . . | 09 . . g.67886
CCTACAGTTGTCTGGTACAGAAACCAGATGCTCATCTCAGAG | GACTCACGGTTCGAGGTC c.1380
P T V V W Y R N Q M L I S E | D S R F E V p.460
. . . . . . g.67946
TTCAAGAATGGGACCTTGCGCATCAACAGCGTGGAGGTGTATGATGGGACATGGTACCGT c.1440
F K N G T L R I N S V E V Y D G T W Y R p.480
. . . . . | 10 g.68140
TGTATGAGCAGCACCCCAGCCGGCAGCATCGAGGCGCAAGCCCGTGTCCAAGTGCTGG | AA c.1500
C M S S T P A G S I E A Q A R V Q V L E | p.500
. . . . . . g.68200
AAGCTCAAGTTCACACCACCACCCCAGCCACAGCAGTGCATGGAGTTTGACAAGGAGGCC c.1560
K L K F T P P P Q P Q Q C M E F D K E A p.520
. . . . . | 11 g.70402
ACGGTGCCCTGTTCAGCCACAGGCCGAGAGAAGCCCACTATTAAGTGGGAACGGGCAG | AT c.1620
T V P C S A T G R E K P T I K W E R A D | p.540
. . . . . . g.70462
GGGAGCAGCCTCCCAGAGTGGGTGACAGACAACGCTGGGACCCTGCATTTTGCCCGGGTG c.1680
G S S L P E W V T D N A G T L H F A R V p.560
. . . . . . g.70522
ACTCGAGATGACGCTGGCAACTACACTTGCATTGCCTCCAACGGGCCGCAGGGCCAGATT c.1740
T R D D A G N Y T C I A S N G P Q G Q I p.580
. . | 12 . . . g.70695
CGTGCCCATGTCCAGCTCACTGTGGCAG | TTTTTATCACCTTCAAAGTGGAACCAGAGCGT c.1800
R A H V Q L T V A V | F I T F K V E P E R p.600
. . . . . . g.70755
ACGACTGTGTACCAGGGCCACACAGCCCTACTGCAGTGCGAGGCCCAGGGGGACCCCAAG c.1860
T T V Y Q G H T A L L Q C E A Q G D P K p.620
. . . . . | 13 g.70905
CCGCTGATTCAGTGGAAAGGCAAGGACCGCATCCTGGACCCCACCAAGCTGGGACCCAG | G c.1920
P L I Q W K G K D R I L D P T K L G P R | p.640
. . . . . . g.70965
ATGCACATCTTCCAGAATGGCTCCCTGGTGATCCATGACGTGGCCCCTGAGGACTCAGGC c.1980
M H I F Q N G S L V I H D V A P E D S G p.660
. . . . . . g.71025
CGCTACACCTGCATTGCAGGCAACAGCTGCAACATCAAGCACACGGAGGCCCCCCTCTAT c.2040
R Y T C I A G N S C N I K H T E A P L Y p.680
| 14. . . . . . g.72202
GTCGTGG | ACAAGCCTGTGCCGGAGGAGTCGGAGGGCCCTGGCAGCCCTCCCCCCTACAAG c.2100
V V D | K P V P E E S E G P G S P P P Y K p.700
. . . . . . g.72262
ATGATCCAGACCATTGGGTTGTCGGTGGGTGCCGCTGTGGCCTACATCATTGCCGTGCTG c.2160
M I Q T I G L S V G A A V A Y I I A V L p.720
. . . . . . g.72322
GGCCTCATGTTCTACTGCAAGAAGCGCTGCAAAGCCAAGCGGCTGCAGAAGCAGCCCGAG c.2220
G L M F Y C K K R C K A K R L Q K Q P E p.740
. . . | 15 . . . g.73212
GGCGAGGAGCCAGAGATGGAATGCCTCAACG | GTGGGCCTTTGCAGAACGGGCAGCCCTCA c.2280
G E E P E M E C L N G | G P L Q N G Q P S p.760
. . . . . . g.73272
GCAGAGATCCAAGAAGAAGTGGCCTTGACCAGCTTGGGCTCCGGCCCCGCGGCCACCAAC c.2340
A E I Q E E V A L T S L G S G P A A T N p.780
. . . . . . g.73332
AAACGCCACAGCACAAGTGATAAGATGCACTTCCCACGGTCTAGCCTGCAGCCCATCACC c.2400
K R H S T S D K M H F P R S S L Q P I T p.800
| 16. . . . . . g.73985
ACGCTGG | GGAAGAGTGAGTTTGGGGAGGTGTTCCTGGCAAAGGCTCAGGGCTTGGAGGAG c.2460
T L G | K S E F G E V F L A K A Q G L E E p.820
. . . . . . g.74045
GGAGTGGCAGAGACCCTGGTACTTGTGAAGAGCCTGCAGAGCAAGGATGAGCAGCAGCAG c.2520
G V A E T L V L V K S L Q S K D E Q Q Q p.840
. . . . . . g.74105
CTGGACTTCCGGAGGGAGTTGGAGATGTTTGGGAAGCTGAACCACGCCAACGTGGTGCGG c.2580
L D F R R E L E M F G K L N H A N V V R p.860
. . . . . . g.74165
CTCCTGGGGCTGTGCCGGGAGGCTGAGCCCCACTACATGGTGCTGGAATATGTGGATCTG c.2640
L L G L C R E A E P H Y M V L E Y V D L p.880
| 17 . . . . . . g.75410
| GGAGACCTCAAGCAGTTCCTGAGGATTTCCAAGAGCAAGGATGAAAAATTGAAGTCACAG c.2700
| G D L K Q F L R I S K S K D E K L K S Q p.900
. . | 18 . . . . g.87588
CCCCTCAGCACCAAGCAGAAG | GTGGCCCTATGCACCCAGGTAGCCCTGGGCATGGAGCAC c.2760
P L S T K Q K | V A L C T Q V A L G M E H p.920
. . . . . . g.87648
CTGTCCAACAACCGCTTTGTGCATAAGGACTTGGCTGCGCGTAACTGCCTGGTCAGTGCC c.2820
L S N N R F V H K D L A A R N C L V S A p.940
. . . . . | 19 . g.88527
CAGAGACAAGTGAAGGTGTCTGCCCTGGGCCTCAGCAAGGATGTGTACAACAG | TGAGTAC c.2880
Q R Q V K V S A L G L S K D V Y N S | E Y p.960
. . . . . . g.88587
TACCACTTCCGCCAGGCCTGGGTGCCGCTGCGCTGGATGTCCCCCGAGGCCATCCTGGAG c.2940
Y H F R Q A W V P L R W M S P E A I L E p.980
. . . . . . g.88647
GGTGACTTCTCTACCAAGTCTGATGTCTGGGCCTTCGGTGTGCTGATGTGGGAAGTGTTT c.3000
G D F S T K S D V W A F G V L M W E V F p.1000
. . . . . | 20 . g.89461
ACACATGGAGAGATGCCCCATGGTGGGCAGGCAGATGATGAAGTACTGGCAG | ATTTGCAG c.3060
T H G E M P H G G Q A D D E V L A D | L Q p.1020
. . . . . . g.89521
GCTGGGAAGGCTAGACTTCCTCAGCCCGAGGGCTGCCCTTCCAAACTCTATCGGCTGATG c.3120
A G K A R L P Q P E G C P S K L Y R L M p.1040
. . . . . . g.89581
CAGCGCTGCTGGGCCCTCAGCCCCAAGGACCGGCCCTCCTTCAGTGAGATTGCCAGCGCC c.3180
Q R C W A L S P K D R P S F S E I A S A p.1060
. . . g.89614
CTGGGAGACAGCACCGTGGACAGCAAGCCGTGA c.3213
L G D S T V D S K P X p.1070
. . . . . . g.89674
ggagggagcccgctcaggatggcctgggcaggggaggacatctctagagggaagctcaca c.*60
. . . . . . g.89734
gcatgatgggcaagatccctgtcctcctgggccctgaggcccctgccctagtgcaacagg c.*120
. . . . . . g.89794
cattgctgaggtctgagcagggcctggcctttcctcctcttcctcaccctcatcctttgg c.*180
. . . . . . g.89854
gaggctgacttggacccaaactgggcgactagggctttgagctgggcagttttccctgcc c.*240
. . . . . . g.89914
acctcttcctctatcagggacagtgtgggtgccacaggtaaccccaatttctggccttca c.*300
. . . . . . g.89974
acttctccccttgaccgggtccaactctgccactcatctgccaactttgcctggggaggg c.*360
. . . . . . g.90034
ctaggcttgggatgagctgggtttgtggggagttccttaatattctcaagttctgggcac c.*420
. . . . . . g.90094
acagggttaatgagtctcttggcccactggtcccacttgggggtctagaccaggattata c.*480
. . . . . . g.90154
gaggacacagcaagtgagtcctccccactctgggcttgtgcacactgacccagacccacg c.*540
. . . . . . g.90214
tcttccccacccttctctcctttcctcatcctaagtgcctggcagatgaaggagttttca c.*600
. . . . . . g.90274
ggagcttttgacactatataaaccgccctttttgtatgcaccacgggcggcttttatatg c.*660
. . . . . . g.90334
taattgcagcgtggggtgggtgggcatgggaggtaggggtgggccctggagatgaggagg c.*720
. . . . . . g.90394
gtgggccatccttaccccacacttttattgttgtcgttttttgtttgttttgtttttttg c.*780
. . . . . g.90453
tttttgtttttgtttttacactcgctgctctcaataaataagccttttttacaacctgt c.*839
(downstream sequence)
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