(used for variant description)
(last modified November 24, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_013956.3 in the NRG1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012005.1, covering NRG1 transcript NM_013956.3.
(upstream sequence)
. . . g.913945
gaggccaggggagggtgcgaaggaggcgcctgcctcc c.-481
. . . . . . g.914005
aacctgcgggcgggaggtgggtggctgcggggcaattgaaaaagagccggcgaggagttc c.-421
. . . . . . g.914065
cccgaaacttgttggaactccgggctcgcgcggaggccaggagctgagcggcggcggctg c.-361
. . . . . . g.914125
ccggacgatgggagcgtgagcaggacggtgataacctctccccgatcgggttgcgagggc c.-301
. . . . . . g.914185
gccgggcagaggccaggacgcgagccgccagcggtgggacccatcgacgacttcccgggg c.-241
. . . . . . g.914245
cgacaggagcagccccgagagccagggcgagcgcccgttccaggtggccggaccgcccgc c.-181
. . . . . . g.914305
cgcgtccgcgccgcgctccctgcaggcaacgggagacgcccccgcgcagcgcgagcgcct c.-121
. . . . . . g.914365
cagcgcggccgctcgctctccccctcgagggacaaacttttcccaaacccgatccgagcc c.-61
. . . . . . g.914425
cttggaccaaactcgcctgcgccgagagccgtccgcgtagagcgctccgtctccggcgag c.-1
. . . . . . g.914485
ATGTCCGAGCGCAAAGAAGGCAGAGGCAAAGGGAAGGGCAAGAAGAAGGAGCGAGGCTCC c.60
M S E R K E G R G K G K G K K K E R G S p.20
. . . . | 02 . . g.961546
GGCAAGAAGCCGGAGTCCGCGGCGGGCAGCCAGAGCCCAG | CCTTGCCTCCCCGATTGAAA c.120
G K K P E S A A G S Q S P A | L P P R L K p.40
. . . . . . g.961606
GAGATGAAAAGCCAGGAATCGGCTGCAGGTTCCAAACTAGTCCTTCGGTGTGAAACCAGT c.180
E M K S Q E S A A G S K L V L R C E T S p.60
. . . . . . g.961666
TCTGAATACTCCTCTCTCAGATTCAAGTGGTTCAAGAATGGGAATGAATTGAATCGAAAA c.240
S E Y S S L R F K W F K N G N E L N R K p.80
. . . | 03 . . g.971282
AACAAACCACAAAATATCAAGATACAAAAAAAGCCAGG | GAAGTCAGAACTTCGCATTAAC c.300
N K P Q N I K I Q K K P G | K S E L R I N p.100
. . . . . . g.971342
AAAGCATCACTGGCTGATTCTGGAGAGTATATGTGCAAAGTGATCAGCAAATTAGGAAAT c.360
K A S L A D S G E Y M C K V I S K L G N p.120
. . . . | 04 . . g.980232
GACAGTGCCTCTGCCAATATCACCATCGTGGAATCAAACG | AGATCATCACTGGTATGCCA c.420
D S A S A N I T I V E S N E | I I T G M P p.140
. . . | 05 . . . g.982562
GCCTCAACTGAAGGAGCATATGTGTCTTCAG | AGTCTCCCATTAGAATATCAGTATCCACA c.480
A S T E G A Y V S S E | S P I R I S V S T p.160
. . | 06 . . . . g.1093685
GAAGGAGCAAATACTTCTTCAT | CTACATCTACATCCACCACTGGGACAAGCCATCTTGTA c.540
E G A N T S S S | T S T S T T G T S H L V p.180
. . . . . . g.1093745
AAATGTGCGGAGAAGGAGAAAACTTTCTGTGTGAATGGAGGGGAGTGCTTCATGGTGAAA c.600
K C A E K E K T F C V N G G E C F M V K p.200
. . . | 07 . . . g.1108401
GACCTTTCAAACCCCTCGAGATACTTGTGCAA | GTGCCCAAATGAGTTTACTGGTGATCGC c.660
D L S N P S R Y L C K | C P N E F T G D R p.220
. . . | 08 . . | 09 . g.1120075
TGCCAAAACTACGTAATGGCCAGCTTCTACA | AGCATCTTGGGATTGAATTTATGG | AGGCG c.720
C Q N Y V M A S F Y K | H L G I E F M E | A p.240
. . . . . . g.1120135
GAGGAGCTGTACCAGAAGAGAGTGCTGACCATAACCGGCATCTGCATCGCCCTCCTTGTG c.780
E E L Y Q K R V L T I T G I C I A L L V p.260
. . . | 10 . . g.1122123
GTCGGCATCATGTGTGTGGTGGCCTACTGCAAAACCAA | GAAACAGCGGAAAAAGCTGCAT c.840
V G I M C V V A Y C K T K | K Q R K K L H p.280
. . . . . . g.1122183
GACCGTCTTCGGCAGAGCCTTCGGTCTGAACGAAACAATATGATGAACATTGCCAATGGG c.900
D R L R Q S L R S E R N N M M N I A N G p.300
. . . . | 11 . . g.1125019
CCTCACCATCCTAACCCACCCCCCGAGAATGTCCAGCTGGTGAAT | CAATACGTATCTAAA c.960
P H H P N P P P E N V Q L V N | Q Y V S K p.320
. . . . . . g.1125079
AACGTCATCTCCAGTGAGCATATTGTTGAGAGAGAAGCAGAGACATCCTTTTCCACCAGT c.1020
N V I S S E H I V E R E A E T S F S T S p.340
. . . . . | 12 . g.1125902
CACTATACTTCCACAGCCCATCACTCCACTACTGTCACCCAGACTCCTAGCCACAG | CTGG c.1080
H Y T S T A H H S T T V T Q T P S H S | W p.360
. . . . . . g.1125962
AGCAACGGACACACTGAAAGCATCCTTTCCGAAAGCCACTCTGTAATCGTGATGTCATCC c.1140
S N G H T E S I L S E S H S V I V M S S p.380
. . . . . . g.1126022
GTAGAAAACAGTAGGCACAGCAGCCCAACTGGGGGCCCAAGAGGACGTCTTAATGGCACA c.1200
V E N S R H S S P T G G P R G R L N G T p.400
. . . . . . g.1126082
GGAGGCCCTCGTGAATGTAACAGCTTCCTCAGGCATGCCAGAGAAACCCCTGATTCCTAC c.1260
G G P R E C N S F L R H A R E T P D S Y p.420
. . | 13 . . . . g.1129483
CGAGACTCTCCTCATAGTGAAAG | GTATGTGTCAGCCATGACCACCCCGGCTCGTATGTCA c.1320
R D S P H S E R | Y V S A M T T P A R M S p.440
. . . . . . g.1129543
CCTGTAGATTTCCACACGCCAAGCTCCCCCAAATCGCCCCCTTCGGAAATGTCTCCACCC c.1380
P V D F H T P S S P K S P P S E M S P P p.460
. . . . . . g.1129603
GTGTCCAGCATGACGGTGTCCATGCCTTCCATGGCGGTCAGCCCCTTCATGGAAGAAGAG c.1440
V S S M T V S M P S M A V S P F M E E E p.480
. . . . . . g.1129663
AGACCTCTACTTCTCGTGACACCACCAAGGCTGCGGGAGAAGAAGTTTGACCATCACCCT c.1500
R P L L L V T P P R L R E K K F D H H P p.500
. . . . . . g.1129723
CAGCAGTTCAGCTCCTTCCACCACAACCCCGCGCATGACAGTAACAGCCTCCCTGCTAGC c.1560
Q Q F S S F H H N P A H D S N S L P A S p.520
. . . . . . g.1129783
CCCTTGAGGATAGTGGAGGATGAGGAGTATGAAACGACCCAAGAGTACGAGCCAGCCCAA c.1620
P L R I V E D E E Y E T T Q E Y E P A Q p.540
. . . . . . g.1129843
GAGCCTGTTAAGAAACTCGCCAATAGCCGGCGGGCCAAAAGAACCAAGCCCAATGGCCAC c.1680
E P V K K L A N S R R A K R T K P N G H p.560
. . . . . . g.1129903
ATTGCTAACAGATTGGAAGTGGACAGCAACACAAGCTCCCAGAGCAGTAACTCAGAGAGT c.1740
I A N R L E V D S N T S S Q S S N S E S p.580
. . . . . . g.1129963
GAAACAGAAGATGAAAGAGTAGGTGAAGATACGCCTTTCCTGGGCATACAGAACCCCCTG c.1800
E T E D E R V G E D T P F L G I Q N P L p.600
. . . . . . g.1130023
GCAGCCAGTCTTGAGGCAACACCTGCCTTCCGCCTGGCTGACAGCAGGACTAACCCAGCA c.1860
A A S L E A T P A F R L A D S R T N P A p.620
. . . . . . g.1130083
GGCCGCTTCTCGACACAGGAAGAAATCCAGGCCAGGCTGTCTAGTGTAATTGCTAACCAA c.1920
G R F S T Q E E I Q A R L S S V I A N Q p.640
. g.1130101
GACCCTATTGCTGTATAA c.1938
D P I A V X p.645
. . . . . . g.1130161
aacctaaataaacacatagattcacctgtaaaactttattttatataataaagtattcca c.*60
. . . . . . g.1130221
ccttaaattaaacaatttattttattttagcagttctgcaaatagaaaacaggaaaaaaa c.*120
. . . . . . g.1130281
cttttataaattaaatatatgtatgtaaaaatgtgttatgtgccatatgtagcaattttt c.*180
. . . . . . g.1130341
tacagtatttcaaaacgagaaagatatcaatggtgcctttatgttatgttatgtcgagag c.*240
. . . . . . g.1130401
caagttttgtacagttacagtgattgcttttccacagtatttctgcaaaacctctcatag c.*300
. . . . . . g.1130461
attcagtttttgctggcttcttgtgcattgcattatgatgttgactggatgtatgatttg c.*360
. . . . . . g.1130521
caagacttgcaactgtccctctgtttgcttgtagtagcacccgatcagtatgtcttgtaa c.*420
. . . . . . g.1130581
tggcacatccatccagatatgcctctcttgtgtatgaagttttctttgctttcagaatat c.*480
. . . . . . g.1130641
gaaatgagttgtgtctactctgccagccaaaggtttgcctcattgggctctgagataata c.*540
. . . . . . g.1130701
gtagatccaacagcatgctactattaaatacagcaagaaactgcattaagtaatgttaaa c.*600
. . . g.1130739
tattaggaagaaagtaatactgtgatttaaaaaaaact c.*638
(downstream sequence)
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