(used for variant description)
(last modified December 10, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_003502.3 in the AXIN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012267.1, covering AXIN1 transcript NM_003502.3.
(upstream sequence)
. . g.4817
tctggctcgggctctggctcgggaggcga c.-361
. . . . . . g.4877
tcgtggccgctgccgccgccagagccggccggagtcggcccggagccgcgtccacgcgga c.-301
. . . . . . g.4937
gcgggcgggtgggagctggcggctgggcccctgcggcgcccccgcggcctgccccgcgtc c.-241
. . . . . . g.4997
cgcctccgggccgccgagccgcagccgccgagatgggggccgccccgggccgcgcccccg c.-181
. . . . . . g.5057
ccgggtcccgcccgccgcgctgccgctgagcgcatgggcccggaccgcgccgcgccgctc c.-121
. . . . | 02 . g.10379
cgggagccgggcccggggtcccgccaccaccgcgcgcgg | gacagattgattcactttgga c.-61
. . . . . . g.10439
gctgtaagtactgatgtattagggtgcagcgctcattgttccttgacgcagagtcccaaa c.-1
. . . . . . g.10499
ATGAATATCCAAGAGCAGGGTTTCCCCTTGGACCTCGGAGCAAGTTTCACCGAAGATGCT c.60
M N I Q E Q G F P L D L G A S F T E D A p.20
. . . . . . g.10559
CCCCGACCCCCAGTGCCTGGTGAGGAGGGAGAACTGGTGTCCACAGACCCGAGGCCCGCC c.120
P R P P V P G E E G E L V S T D P R P A p.40
. . . . . . g.10619
AGCTACAGTTTCTGCTCCGGGAAAGGTGTTGGCATTAAAGGTGAGACTTCGACGGCCACT c.180
S Y S F C S G K G V G I K G E T S T A T p.60
. . . . . . g.10679
CCGAGGCGCTCGGATCTGGACCTGGGGTATGAGCCTGAGGGCAGTGCCTCCCCCACCCCA c.240
P R R S D L D L G Y E P E G S A S P T P p.80
. . . . . . g.10739
CCATACTTGAAGTGGGCTGAGTCACTGCATTCCCTGCTGGATGACCAAGATGGGATAAGC c.300
P Y L K W A E S L H S L L D D Q D G I S p.100
. . . . . . g.10799
CTGTTCAGGACTTTCCTGAAGCAGGAGGGCTGTGCCGACTTGCTGGACTTCTGGTTTGCC c.360
L F R T F L K Q E G C A D L L D F W F A p.120
. . . . . . g.10859
TGCACTGGCTTCAGGAAGCTGGAGCCCTGTGACTCGAACGAGGAGAAGAGGCTGAAGCTG c.420
C T G F R K L E P C D S N E E K R L K L p.140
. . . . . . g.10919
GCGAGAGCCATCTACCGAAAGTACATTCTTGATAACAATGGCATCGTGTCCCGGCAGACC c.480
A R A I Y R K Y I L D N N G I V S R Q T p.160
. . . . . . g.10979
AAGCCAGCCACCAAGAGCTTCATAAAGGGCTGCATCATGAAGCAGCTGATCGATCCTGCC c.540
K P A T K S F I K G C I M K Q L I D P A p.180
. . . . . . g.11039
ATGTTTGACCAGGCCCAGACCGAAATCCAGGCCACTATGGAGGAAAACACCTATCCCTCC c.600
M F D Q A Q T E I Q A T M E E N T Y P S p.200
. . . . . . g.11099
TTCCTTAAGTCTGATATTTATTTGGAATATACGAGGACAGGCTCGGAGAGCCCCAAAGTC c.660
F L K S D I Y L E Y T R T G S E S P K V p.220
. . . . . . g.11159
TGTAGTGACCAGAGCTCTGGGTCAGGGACAGGGAAGGGCATATCTGGATACCTGCCGACC c.720
C S D Q S S G S G T G K G I S G Y L P T p.240
. . . . . . g.11219
TTAAATGAAGATGAGGAATGGAAGTGTGACCAGGACATGGATGAGGACGATGGCAGAGAC c.780
L N E D E E W K C D Q D M D E D D G R D p.260
. . . . . . g.11279
GCTGCTCCCCCCGGAAGACTCCCTCAGAAGCTGCTCCTGGAGACAGCTGCCCCGAGGGTC c.840
A A P P G R L P Q K L L L E T A A P R V p.280
. . . | 03 . . g.42803
TCCTCCAGTAGACGGTACAGCGAAGGCAGAGAGTTCAG | GTATGGATCCTGGCGGGAGCCA c.900
S S S R R Y S E G R E F R | Y G S W R E P p.300
. . . . . . g.42863
GTCAACCCCTATTATGTCAATGCCGGCTATGCCCTGGCCCCAGCCACCAGTGCCAACGAC c.960
V N P Y Y V N A G Y A L A P A T S A N D p.320
. . . . . | 04 g.47396
AGCGAGCAGCAGAGCCTGTCCAGCGATGCAGACACCCTGTCCCTCACGGACAGCAGCGT | G c.1020
S E Q Q S L S S D A D T L S L T D S S V | p.340
. . . . . . g.47456
GATGGGATCCCCCCATACAGGATCCGTAAGCAGCACCGCAGGGAGATGCAGGAGAGCGTG c.1080
D G I P P Y R I R K Q H R R E M Q E S V p.360
. . . | 05 . . . g.53047
CAGGTCAATGGGCGGGTGCCCCTACCTCACATTCCC | CGCACGTACCGGGTGCCGAAGGAG c.1140
Q V N G R V P L P H I P | R T Y R V P K E p.380
. . . . . . g.53107
GTCCGCGTGGAGCCTCAGAAGTTCGCGGAGGAGCTCATCCACCGCCTGGAGGCTGTGCAG c.1200
V R V E P Q K F A E E L I H R L E A V Q p.400
. . . . . | 06 . g.59219
CGCACGCGGGAGGCCGAGGAGAAGCTGGAGGAGCGGCTGAAGCGCGTGCGCATG | GAGGAG c.1260
R T R E A E E K L E E R L K R V R M | E E p.420
. . . . . . g.59279
GAAGGTGAGGACGGCGATCCATCGTCAGGGCCCCCAGGGCCGTGTCACAAGCTGCCTCCC c.1320
E G E D G D P S S G P P G P C H K L P P p.440
. . . . . . g.59339
GCCCCCGCTTGGCACCACTTCCCGCCCCGCTGTGTGGACATGGGCTGTGCCGGGCTCCGG c.1380
A P A W H H F P P R C V D M G C A G L R p.460
. . . . . . g.59399
GATGCACACGAGGAGAACCCTGAGAGCATCCTGGACGAGCACGTACAGCGTGTGCTGAGG c.1440
D A H E E N P E S I L D E H V Q R V L R p.480
. . . . . . g.59459
ACACCTGGCCGCCAGTCGCCTGGGCCTGGCCATCGCTCCCCGGACAGTGGGCACGTGGCC c.1500
T P G R Q S P G P G H R S P D S G H V A p.500
. . . . . . g.59519
AAGATGCCAGTGGCACTGGGGGGTGCCGCCTCGGGGCACGGGAAGCACGTACCCAAGTCA c.1560
K M P V A L G G A A S G H G K H V P K S p.520
. . . . . . g.59579
GGGGCGAAGCTGGACGCGGCCGGCCTGCACCACCACCGACACGTCCACCACCACGTCCAC c.1620
G A K L D A A G L H H H R H V H H H V H p.540
. . . . . . g.59639
CACAGCACAGCCCGGCCCAAGGAGCAGGTGGAGGCCGAGGCCACCCGCAGGGCCCAGAGC c.1680
H S T A R P K E Q V E A E A T R R A Q S p.560
. . . . . . g.59699
AGCTTCGCCTGGGGCCTGGAACCACACAGCCATGGGGCAAGGTCCCGAGGCTACTCAGAG c.1740
S F A W G L E P H S H G A R S R G Y S E p.580
. . . . | 07 . . g.60254
AGTGTTGGCGCTGCCCCCAACGCCAGTGATGGCCTCGCCCACAG | TGGGAAGGTGGGCGTG c.1800
S V G A A P N A S D G L A H S | G K V G V p.600
. . . . . . g.60314
GCGTGCAAAAGAAATGCCAAGAAGGCTGAGTCGGGGAAGAGCGCCAGCACCGAGGTGCCA c.1860
A C K R N A K K A E S G K S A S T E V P p.620
. . . . . . g.60374
GGTGCCTCGGAGGATGCGGAGAAGAACCAGAAAATCATGCAGTGGATCATTGAGGGGGAA c.1920
G A S E D A E K N Q K I M Q W I I E G E p.640
. . . | 08 . . . g.63771
AAGGAGATCAGCAGGCACCGCAGGACCGGCCACGG | GTCTTCGGGGACGAGGAAGCCACAG c.1980
K E I S R H R R T G H G | S S G T R K P Q p.660
. . . . . . g.63831
CCCCATGAGAACTCCAGACCCTTGTCCCTTGAGCACCCCTGGGCCGGCCCTCAGCTCCGG c.2040
P H E N S R P L S L E H P W A G P Q L R p.680
. . . . . . g.63891
ACCTCCGTGCAGCCCTCCCACCTCTTCATCCAAGACCCCACCATGCCACCCCACCCAGCT c.2100
T S V Q P S H L F I Q D P T M P P H P A p.700
. . . . . . g.63951
CCCAACCCCCTAACCCAGCTGGAGGAGGCGCGCCGACGTCTGGAGGAGGAAGAAAAGAGA c.2160
P N P L T Q L E E A R R R L E E E E K R p.720
. . | 09 . . . . g.66201
GCCAGCCGAGCACCCTCCAAGCAGAG | GTATGTGCAGGAGGTTATGCGGCGGGGACGCGCC c.2220
A S R A P S K Q R | Y V Q E V M R R G R A p.740
. . . . . . g.66261
TGCGTCAGGCCAGCGTGCGCGCCGGTGCTGCACGTGGTACCAGCCGTGTCGGACATGGAG c.2280
C V R P A C A P V L H V V P A V S D M E p.760
. | 10 . . . . . g.67903
CTCTCCGAGACAGA | GACAAGATCGCAGAGGAAGGTGGGCGGCGGGAGTGCCCAGCCGTGT c.2340
L S E T E | T R S Q R K V G G G S A Q P C p.780
. . . . . . g.67963
GACAGCATCGTTGTGGCGTACTACTTCTGCGGGGAACCCATCCCCTACCGCACCCTGGTG c.2400
D S I V V A Y Y F C G E P I P Y R T L V p.800
. . . . . . g.68023
AGGGGCCGCGCTGTCACCCTGGGCCAGTTCAAGGAGCTGCTGACCAAAAAGGGCAGCTAC c.2460
R G R A V T L G Q F K E L L T K K G S Y p.820
| 11 . . . . . . g.69274
AG | ATACTACTTCAAGAAAGTGAGCGACGAGTTTGACTGTGGGGTGGTGTTTGAGGAGGTT c.2520
R | Y Y F K K V S D E F D C G V V F E E V p.840
. . . . . . g.69334
CGAGAGGACGAGGCCGTCCTGCCCGTCTTTGAGGAGAAGATCATCGGCAAAGTGGAGAAG c.2580
R E D E A V L P V F E E K I I G K V E K p.860
g.69343
GTGGACTGA c.2589
V D X p.862
. . . . . . g.69403
taggctggtgggctggccgctgtgccaggcgaggcccttggcgggcacgggtgtcacggc c.*60
. . . . . . g.69463
caggcagatgacctcgtactcaggagcccgatggggaacagtgttgggtgtaccacccat c.*120
. . . . . . g.69523
ccctgtggtctacccgtgtctagaggcaggtagggggtccctccaagtggtccacaagct c.*180
. . . . . . g.69583
tctgtcctgcccccaaggaggcagcctggaccactcctcatagcaatacttggagggccc c.*240
. . . . . . g.69643
agcccaagtgaggcagccgaggtccctgctgccagcttcaggtgacccccccccatcccc c.*300
. . . . . . g.69703
cggcacctcccttgggcacgtgtgctgggatctactttccctctgggatttgcccacgta c.*360
. . . . . . g.69763
cccaggtctgggtggggcccaggcccggatgcagaggcctgcagggcctctgtcaattgt c.*420
. . . . . . g.69823
acgcgccaccgagtgccttcaacacagcttgtctcttgcctgccactgtgtgaatcggcg c.*480
. . . . . . g.69883
acggagcactgcacctgcctccagccgccggctgtgcagtcctgggtcctcctttctgag c.*540
. . . . . . g.69943
ggcccgtgtaaatatgtacatttctcaggctaggccagcaggggctgcccgagtctgttt c.*600
. . . . . . g.70003
ttcatgcgatgacacttgtacaattaattatcttttcaaaggtacttggataataatgaa c.*660
. . g.70025
ataaaactgtttttgaacctgc c.*682
(downstream sequence)
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