(used for variant description)
(last modified April 16, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_018972.2 in the GDAP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008787.2, covering GDAP1 transcript NM_018972.2.
(upstream sequence)
. g.5019
gaaacgccttgcggggcag c.-61
. . . . . . g.5079
tgtgggagggagaagtccagggcggacaggctgggcgcacccgtgctcgcgcaccccaag c.-1
. . . . . . g.5139
ATGGCTGAGAGGCAGGAAGAGCAGAGAGGGAGCCCGCCCTTGAGGGCGGAAGGCAAGGCC c.60
M A E R Q E E Q R G S P P L R A E G K A p.20
. . . . . | 02. g.5894
GACGCGGAGGTTAAGCTCATTCTGTACCATTGGACGCATTCGTTCAGCTCTCAAAAG | GTG c.120
D A E V K L I L Y H W T H S F S S Q K | V p.40
. . . . . . g.5954
CGCTTGGTAATTGCTGAAAAGGCATTGAAGTGCGAGGAACATGATGTAAGTCTGCCCTTG c.180
R L V I A E K A L K C E E H D V S L P L p.60
. . . . . . g.6014
AGTGAGCACAATGAGCCTTGGTTTATGCGTTTGAACTCAACTGGAGAAGTGCCTGTCCTT c.240
S E H N E P W F M R L N S T G E V P V L p.80
. . . . . . g.6074
ATCCACGGGGAAAACATAATTTGTGAGGCCACTCAGATCATTGATTATCTTGAACAGACT c.300
I H G E N I I C E A T Q I I D Y L E Q T p.100
. | 03 . . . . . g.14804
TTCCTGGATG | AAAGAACACCCAGGTTAATGCCTGATAAAGAAAGCATGTATTACCCACGG c.360
F L D E | R T P R L M P D K E S M Y Y P R p.120
. . . . . . g.14864
GTACAACATTACCGAGAGCTGCTTGACTCCTTGCCAATGGATGCCTATACACATGGCTGC c.420
V Q H Y R E L L D S L P M D A Y T H G C p.140
. . . . . . g.14924
ATTTTACATCCTGAGTTAACTGTGGACTCCATGATCCCGGCTTATGCAACTACAAGGATT c.480
I L H P E L T V D S M I P A Y A T T R I p.160
| 04 . . . . . . g.16557
CGTA | GCCAAATTGGAAACACAGAGTCTGAGCTGAAGAAACTTGCTGAAGAAAACCCAGAT c.540
R S | Q I G N T E S E L K K L A E E N P D p.180
. . . | 05 . . g.17577
TTACAAGAAGCATACATTGCAAAACAGAAACGACTTAAA | TCAAAGCTGCTTGATCATGAC c.600
L Q E A Y I A K Q K R L K | S K L L D H D p.200
. . . . . . g.17637
AATGTCAAGTATTTGAAGAAAATTCTTGATGAGTTGGAGAAAGTCTTGGATCAGGTTGAA c.660
N V K Y L K K I L D E L E K V L D Q V E p.220
. . . | 06 . . . g.18628
ACTGAATTGCAAAGAAGAAATGAAGAAACCCCAG | AAGAGGGCCAGCAACCTTGGCTCTGC c.720
T E L Q R R N E E T P E | E G Q Q P W L C p.240
. . . . . . g.18688
GGTGAATCCTTCACCCTGGCAGACGTCTCACTCGCTGTCACATTGCATCGACTGAAGTTC c.780
G E S F T L A D V S L A V T L H R L K F p.260
. . . . . . g.18748
CTGGGGTTTGCAAGGAGAAACTGGGGAAACGGAAAGCGACCAAACTTGGAAACCTATTAC c.840
L G F A R R N W G N G K R P N L E T Y Y p.280
. . . . . . g.18808
GAGCGTGTCTTGAAGAGAAAAACATTTAACAAGGTTTTAGGACATGTCAACAATATATTA c.900
E R V L K R K T F N K V L G H V N N I L p.300
. . . . . . g.18868
ATCTCTGCAGTGCTGCCAACAGCATTCCGGGTGGCCAAGAAAAGGGCCCCAAAAGTTCTT c.960
I S A V L P T A F R V A K K R A P K V L p.320
. . . . . . g.18928
GGCACGACCCTTGTGGTTGGTTTGCTTGCAGGAGTGGGATATTTTGCTTTTATGCTTTTC c.1020
G T T L V V G L L A G V G Y F A F M L F p.340
. . . . . g.18985
AGAAAGAGGCTTGGCAGCATGATATTAGCATTTAGACCCAGACCAAATTATTTCTAG c.1077
R K R L G S M I L A F R P R P N Y F X p.358
. . . . . . g.19045
gtttgttgggatcttgtcgtggcagctcatccaagcatttagctagaccctgtgattgcc c.*60
. . . . . . g.19105
cgtggctctctgagtctgtcttattgagtagttagcagtattttttcctaaaattcagaa c.*120
. . . . . . g.19165
gtcatctttgttacacaacacaggggttcaggtagcaataggacacaaaattgctttatt c.*180
. . . . . . g.19225
ctacaactgccagctccaggcagaaataggaaggcaaagagataagagaaggaaaaatga c.*240
. . . . . . g.19285
gagaatgaagtctgtatagggtagagcaatagaaagtaagcttcgggtgcctccaacgtt c.*300
. . . . . . g.19345
catggctgcctgtctcattggtaaacctcacatttagttacttgtggctactgcccacac c.*360
. . . . . . g.19405
atacacttctgtaattgagaactcttaggagaggactagggaatcactggggatagtggg c.*420
. . . . . . g.19465
ctggagagaaccccaggctttatatgtatactttgacctcagtgttaattttaaatgctt c.*480
. . . . . . g.19525
atgaatcacacacattgctttagtaagattaagtgcttatatactagaaatttgatgctc c.*540
. . . . . . g.19585
attggaacacatctgcctagcatttctgtaaaagtcttaagtgatattaagatgattcct c.*600
. . . . . . g.19645
taccatttcagatggtccgcaatttgaattaccaagtggtaatggttccttactgtttta c.*660
. . . . . . g.19705
gatggtgcctgtgagataccattcctctggatggtcatgtccagtcagtgggaggtagaa c.*720
. . . . . . g.19765
agggtggcatctgtagccctcttcatacacataagtggcatttaggtgaatgtcccagct c.*780
. . . . . . g.19825
aatcactagcatgtctaggtattggctgggtagtgggtattttgatgatctgggagcacc c.*840
. . . . . . g.19885
aaatatgttcattcttcgtttggggaggctggtctgtaaacacaaaaattgttgtccaga c.*900
. . . . . . g.19945
tctttcatctgtttatgatcatcaacaaagacttgttagaaaggtctagtcttagcactt c.*960
. . . . . . g.20005
ggcagttaatctagggaagatgaattaaatgggtagatagtgatgcatacctgtattcac c.*1020
. . . . . . g.20065
tgatgtatgtttaagggatttgggggggatacctcagttcatgtggaagggacagtctcg c.*1080
. . . . . . g.20125
gtgtgtcccatgaataaccttggaactgcaacaaatggtttgtgctcagaaaaagtcttt c.*1140
. . . . . . g.20185
catggtgacaggaagacagtttccctggagctggccatgaaggccttagaagccatttct c.*1200
. . . . . . g.20245
ggtgtctggtgggtagcaggcatagagatgatgtgccgaggtcccagtgaacaacagtag c.*1260
. . . . . . g.20305
ccaaagaatgtactaactttatcattaataggaaagtcatacctaggaaacaatgacttt c.*1320
. . . . . . g.20365
ttgatggcaaaatgattttttaattctattttgatgctgtaattccatttcatgacctag c.*1380
. . . . . . g.20425
ttgtattagaaaaccttgatgaactatatgttcccgatttacaaaaaaattaataaaacc c.*1440
. . . . . . g.20485
tccagagtaaactcagtcaaacaataattgagtagcagcttttataacatttaaaatttg c.*1500
. . . . . . g.20545
cacatgagtgtgttgtcatatggagtgtctgaatctgttgctgggacataccaatccatg c.*1560
. . . . . . g.20605
tattcattagagccatagaagttattattcattagttcatagtgtttgagttctttatgt c.*1620
. . . . . . g.20665
cactctgttagaaacaagaactgagtcgtgaagaaataagaattggatttttataaaaac c.*1680
. . . . . . g.20725
ctctgaaggatatttacctatgaaaaagttgttaagaataaaaattagaagtccatggtt c.*1740
. . . . . . g.20785
aacttttccttcaatttatattattcctgaatcatagggaatctttctagaatgtgttta c.*1800
. . . . . . g.20845
taatttccttgtacagtttctttggaaatacgttaaagatagtggcaatttcatatattt c.*1860
. . . . . . g.20905
catggatacttgagtttgtgcttttaaggtgtttgtttagggatacaatgaccactagat c.*1920
. . . . . . g.20965
gtcgctgtttatccagtagactaagattgagtgttctttttgttcagcaactcttctaaa c.*1980
. . . . . . g.21025
atgtttcaagcaaagatagtaatgacctcagtttctgaaataagggcatcttcatcagat c.*2040
. . . . . . g.21085
tattcttctgttttaaaaaaaagcttgaggcaaatgtgagtgatttccagtgctttgaaa c.*2100
. . . . . . g.21145
gggattacagtatcacacaatgtcaagctagagttaaacacagtattagctaaataggca c.*2160
. . . . . . g.21205
cttatgtgtattttctttttcatgattatcggtgactggtcagtgtactcatcaatttcc c.*2220
. . . . . . g.21265
aaaatttgtataaatatcacaattagaaaaatgcctgaggtactaaagttatgttggctt c.*2280
. . . . . . g.21325
tttgtgtcttaacacacataaatactattgttattgcagcagatgccttttgaatccatt c.*2340
. . . . . . g.21385
ttccataattgcggatagtcataaattgcttgctcaatttttagtaattattgctgttga c.*2400
. . . . . . g.21445
caccagcgttgtagatttttggtgttgttgaatgcagtagagagaccaagacactattct c.*2460
. . . . . . g.21505
gtaagatcaataaaagtaattggaaaataaatatgaaccctaaaacaaagtactcacttt c.*2520
. . . . . . g.21565
gtaatcttttttggaaaacagatatatttttttcatttaaaatcaaagcatcatgtggta c.*2580
. . . . . . g.21625
gttaaaagggtaaaataagcagaggttaggtattcaagatacttagctataggatgccat c.*2640
. . . . . . g.21685
attttcgttataacaaaattgctgactcttgcttcatttaaatatgcacggttaaaatga c.*2700
. . . . g.21728
atagcggcctaaagaataacactgatctctcaaaaaaaaaaaa c.*2743
(downstream sequence)
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