(used for variant description)
(last modified December 5, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_000817.2 in the GAD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering GAD1 transcript NM_000817.2.
(upstream sequence)
g.5002
gc c.-421
. . . . . . g.5062
aaaaccgtgagctggatttataatcgccctataaagctccagaggcggtcaggcacctgc c.-361
. . . . . . g.5122
agaggagccccgccgctccgccgactagctgcccccgcgagcaacggcctcgtgatttcc c.-301
. . . . . . g.5182
ccgccgatccggtccccgcctccccactctgcccccgcctaccccggagccgtgcagccg c.-241
. . . . . . g.5242
cctctccgaatctctctcttctcctggcgctcgcgtgcgagagggaactagcgagaacga c.-181
. . . . . . g.5302
ggaagcagctggaggtgacgccgggcagattacgcctgtcagggccgagccgagcggatc c.-121
. . . . . . | 02 g.6842
gctgggcgctgtgcagaggaaaggcgggagtgcccggctcgctgtcgcagagccgag | cct c.-61
. . . . . . g.6902
gtttctgcgccggaccagtcgaggactctggacagtagaggccccgggacgaccgagctg c.-1
. . . . . . g.6962
ATGGCGTCTTCGACCCCATCTTCGTCCGCAACCTCCTCGAACGCGGGAGCGGACCCCAAT c.60
M A S S T P S S S A T S S N A G A D P N p.20
. . | 03 . . . . g.10435
ACCACTAACCTGCGCCCCACAA | CGTACGATACCTGGTGCGGCGTGGCCCATGGATGCACC c.120
T T N L R P T T | Y D T W C G V A H G C T p.40
. . | 04 . . . . g.17820
AGAAAACTGGGGCTCAAGATCTGCG | GCTTCTTGCAAAGGACCAACAGCCTGGAAGAGAAG c.180
R K L G L K I C G | F L Q R T N S L E E K p.60
. . . . . . g.17880
AGTCGCCTTGTGAGTGCCTTCAAGGAGAGGCAATCCTCCAAGAACCTGCTTTCCTGTGAA c.240
S R L V S A F K E R Q S S K N L L S C E p.80
. . . . . . g.17940
AACAGCGACCGGGATGCCCGCTTCCGGCGCACAGAGACTGACTTCTCTAATCTGTTTGCT c.300
N S D R D A R F R R T E T D F S N L F A p.100
| 05 . . . . . . g.19316
AGAG | ATCTGCTTCCGGCTAAGAACGGTGAGGAGCAAACCGTGCAATTCCTCCTGGAAGTG c.360
R D | L L P A K N G E E Q T V Q F L L E V p.120
. . . . . . g.19376
GTGGACATACTCCTCAACTATGTCCGCAAGACATTTGATCGCTCCACCAAGGTGCTGGAC c.420
V D I L L N Y V R K T F D R S T K V L D p.140
. . . . . . g.19436
TTTCATCACCCACACCAGTTGCTGGAAGGCATGGAGGGCTTCAACTTGGAGCTCTCTGAC c.480
F H H P H Q L L E G M E G F N L E L S D p.160
. . . . . . g.19496
CACCCCGAGTCCCTGGAGCAGATCCTGGTTGACTGCAGAGACACCTTGAAGTATGGGGTT c.540
H P E S L E Q I L V D C R D T L K Y G V p.180
| 06. . . . . . g.25156
CGCACAG | GTCATCCTCGATTTTTCAACCAGCTCTCCACTGGATTGGATATTATTGGCCTA c.600
R T G | H P R F F N Q L S T G L D I I G L p.200
. . . | 07 . . g.32377
GCTGGAGAATGGCTGACATCAACGGCCAATACCAACAT | GTTTACATATGAAATTGCACCA c.660
A G E W L T S T A N T N M | F T Y E I A P p.220
. . . . . . g.32437
GTGTTTGTCCTCATGGAACAAATAACACTTAAGAAGATGAGAGAGATAGTTGGATGGTCA c.720
V F V L M E Q I T L K K M R E I V G W S p.240
. . . | 08 . . . g.33845
AGTAAAGATGGTGATGGGATATTTTCTCCTG | GGGGCGCCATATCCAACATGTACAGCATC c.780
S K D G D G I F S P G | G A I S N M Y S I p.260
. . . . . . g.33905
ATGGCTGCTCGCTACAAGTACTTCCCGGAAGTTAAGACAAAGGGCATGGCGGCTGTGCCT c.840
M A A R Y K Y F P E V K T K G M A A V P p.280
. . | 09. . . . g.34049
AAACTGGTCCTCTTCACCTCAGAACAG | AGTCACTATTCCATAAAGAAAGCTGGGGCTGCA c.900
K L V L F T S E Q | S H Y S I K K A G A A p.300
. . . . | 10. . g.34332
CTTGGCTTTGGAACTGACAATGTGATTTTGATAAAGTGCAATGAAAG | GGGGAAAATAATT c.960
L G F G T D N V I L I K C N E R | G K I I p.320
. . . . | 11 . . g.36004
CCAGCTGATTTTGAGGCAAAAATTCTTGAAGCCAAACAGAAG | GGATATGTTCCCTTTTAT c.1020
P A D F E A K I L E A K Q K | G Y V P F Y p.340
. . . . . . g.36064
GTCAATGCAACTGCTGGCACGACTGTTTATGGAGCTTTTGATCCGATACAAGAGATTGCA c.1080
V N A T A G T T V Y G A F D P I Q E I A p.360
. . . | 12 . . g.37617
GATATATGTGAGAAATATAACCTTTGGTTGCATGTCGAT | GCTGCCTGGGGAGGTGGGCTG c.1140
D I C E K Y N L W L H V D | A A W G G G L p.380
. . . . | 13 . . g.41040
CTCATGTCCAGGAAGCACCGCCATAAACTCAACGGCATAGAAAG | GGCCAACTCAGTCACC c.1200
L M S R K H R H K L N G I E R | A N S V T p.400
. . . . . . g.41100
TGGAACCCTCACAAGATGATGGGCGTGCTGTTGCAGTGCTCTGCCATTCTCGTCAAGGAA c.1260
W N P H K M M G V L L Q C S A I L V K E p.420
| 14 . . . . . . g.42240
AAG | GGTATACTCCAAGGATGCAACCAGATGTGTGCAGGATACCTCTTCCAGCCAGACAAG c.1320
K | G I L Q G C N Q M C A G Y L F Q P D K p.440
. . . . . . g.42300
CAGTATGATGTCTCCTACGACACCGGGGACAAGGCAATTCAGTGTGGCCGCCACGTGGAT c.1380
Q Y D V S Y D T G D K A I Q C G R H V D p.460
. . . | 15 . . . g.45355
ATCTTCAAGTTCTGGCTGATGTGGAAAGCAAAG | GGCACAGTGGGATTTGAAAACCAGATC c.1440
I F K F W L M W K A K | G T V G F E N Q I p.480
. . . . . . g.45415
AACAAATGCCTGGAACTGGCTGAATACCTCTATGCCAAGATTAAAAACAGAGAAGAATTT c.1500
N K C L E L A E Y L Y A K I K N R E E F p.500
. . | 16 . . . . g.47153
GAGATGGTTTTCAATGGCGAG | CCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAA c.1560
E M V F N G E | P E H T N V C F W Y I P Q p.520
. . . . . | 17 . g.48028
AGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAG | GTGGCTCCA c.1620
S L R G V P D S P Q R R E K L H K | V A P p.540
. . . . . . g.48088
AAAATCAAAGCCCTGATGATGGAGTCAGGTACGACCATGGTTGGCTACCAGCCCCAAGGG c.1680
K I K A L M M E S G T T M V G Y Q P Q G p.560
. . . . . . g.48148
GACAAGGCCAACTTCTTCCGGATGGTCATCTCCAACCCAGCCGCTACCCAGTCTGACATT c.1740
D K A N F F R M V I S N P A A T Q S D I p.580
. . . . g.48193
GACTTCCTCATTGAGGAGATAGAAAGACTGGGCCAGGATCTGTAA c.1785
D F L I E E I E R L G Q D L X p.594
. . . . . . g.48253
tcatccttcgcagaacatgagtttatgggaatgccttttccctctggcactccagaacaa c.*60
. . . . . . g.48313
acctctatatgttgctgaaacacacaggccatttcattgagggaaaacataatatcttga c.*120
. . . . . . g.48373
agaatattgttaaaaccttacttaaagcttgtttgttctagttagcaggaaatagtgttc c.*180
. . . . . . g.48433
tttttaaaaagttgcacattaggaacagagtatatatgtacagttatacatacctctctc c.*240
. . . . . . g.48493
tatatatacatgtatagtgagtgtggcttagtaatagatcacggcatgtttcccgctcca c.*300
. . . . . . g.48553
agagaattcactttaccttcagcagttaccgaggagctaaacatgctgccaaccagcttg c.*360
. . . . . . g.48613
tccaacaactccaggaaaactgtttttcaaaacgccatgtcctaggggccgagggaaatg c.*420
. . . . . . g.48673
ctgttggtgagaatcgacctcactgtcagcgtttctccacctgaagtgatgatggatgag c.*480
. . . . . . g.48733
aaaaaacaccaccaaatgacaagtcacaccctccccattagtatcctgttaggggaaaat c.*540
. . . . . . g.48793
agtagcagagtcattgttacaggtgtactatggctgtatttttagagattaatttgtgta c.*600
. . . . . . g.48853
gattgtgtaaattcctgttgtctgaccttggtggtgggagggggagactatgtgtcatga c.*660
. . . . . . g.48913
tttcaatgattgtttaattgtaggtcaatgaaatatttgcttatttatattcagagatgt c.*720
. . . . . . g.48973
accatgttaaagaggcgtcttgtattttcttcccatttgtaatgtatcttatttatatat c.*780
. . . . . . g.49033
gaagtaagttctgaaaactgtttatggtattttcgtgcatttgtgagccaaagagaaaag c.*840
. . . . . . g.49093
attaaaattagtgagatttgtatttatattagagtgcccttaaaataatgatttaagcat c.*900
. . . . . . g.49153
tttactgtctgtaagagaattctaagattgtacataaagtcatatatatggaaatcctgt c.*960
. . . . . . g.49213
tacttaaatagcatctgctcttctcttacgctctctgtctggctgtacgtctggtgttct c.*1020
. . . . . . g.49273
caatgcttttctagcaactgttggataataactagatctcctgtaattttgtagtagttg c.*1080
. . . . . . g.49333
atgaccaatctctgtgactcgcttagctgaaacctaaggcaacatttccgaagaccttct c.*1140
. . . . . . g.49393
gaagatctcagataaagtgaccaggctcacaactgtttttgaagaagggaaattcacact c.*1200
. . . . . . g.49453
gtgcgttttagagtatgcaagaagaatataaataaataaaaatattctccatggagaatt c.*1260
g.49462
tgaacaaaa c.*1269
(downstream sequence)
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