(used for variant description)
(last modified November 16, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001482.2 in the GATM gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011674.1, covering GATM transcript NM_001482.2.
(upstream sequence)
. . g.5029
ttgcgacgctcgggtctgggtccgggtcc c.-301
. . . . . . g.5089
ggacgtgcaacagaagccgtcagtggccccgctggctaaaaaagggcaagcatcggaggc c.-241
. . . . . . g.5149
tcgagccagcggccgcggcgcttcccgacagttcctaattcggggcgctacgccggcccc c.-181
. . . . . . g.5209
accacctgttcccggcagccaatggggccgcggggggcggccggggcggagcgcggctac c.-121
. . . . . . g.5269
aaaaggcctcgggccccgcgcgcccgcccaccccgctccgggcgcgctctcgggaaggct c.-61
. . . . . . g.5329
tggaccgacgcggcccagaggccaggaacattccgcgcgtggaccagccgggccagggcg c.-1
. . . . . . g.5389
ATGCTGCGGGTGCGGTGTCTGCGCGGCGGGAGCCGCGGCGCCGAGGCGGTGCACTACATC c.60
M L R V R C L R G G S R G A E A V H Y I p.20
| 02 . . . . . g.7014
GGATCTCGG | CTTGGACGAACCTTGACAGGATGGGTGCAGCGAACTTTCCAGAGCACCCAG c.120
G S R | L G R T L T G W V Q R T F Q S T Q p.40
. . . . . . g.7074
GCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTG c.180
A A T A S S R N S C A A D D K A T E P L p.60
. . . . . . g.7134
CCCAAGGACTGCCCTGTCTCTTCTTACAACGAATGGGACCCCTTAGAGGAAGTGATAGTG c.240
P K D C P V S S Y N E W D P L E E V I V p.80
. . . . | 03 . g.14273
GGCAGAGCAGAAAACGCCTGTGTTCCACCGTTCACCATCGAGGTGAAG | GCCAACACATAT c.300
G R A E N A C V P P F T I E V K | A N T Y p.100
. . . . . . g.14333
GAAAAGTACTGGCCATTTTACCAGAAGCAAGGAGGGCATTATTTTCCCAAAGATCATTTG c.360
E K Y W P F Y Q K Q G G H Y F P K D H L p.120
. . . . . . g.14393
AAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGGAAGGAGTGACA c.420
K K A V A E I E E M C N I L K T E G V T p.140
. . . . . . g.14453
GTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCT c.480
V R R P D P I D W S L K Y K T P D F E S p.160
| 04 . . . . . . g.15578
ACGG | GTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTGGGCAATGAGATTATC c.540
T G | L Y S A M P R D I L I V V G N E I I p.180
. . . . . . g.15638
GAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATC c.600
E A P M A W R S R F F E Y R A Y R S I I p.200
. . . . . . g.15698
AAAGACTACTTCCACCGTGGCGCCAAGTGGACAACAGCTCCTAAGCCCACAATGGCTGAT c.660
K D Y F H R G A K W T T A P K P T M A D p.220
. | 05 . . . . . g.17319
GAGCTTTATAACCAG | GATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCT c.720
E L Y N Q | D Y P I H S V E D R H K L A A p.240
. . . . . . g.17379
CAGGGAAAATTTGTGACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGA c.780
Q G K F V T T E F E P C F D A A D F I R p.260
. . . | 06 . . . g.17599
GCTGGAAGAGATATTTTTGCACAGAGAAGCCAG | GTTACAAACTACCTAGGCATTGAATGG c.840
A G R D I F A Q R S Q | V T N Y L G I E W p.280
. . . . . . g.17659
ATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAAT c.900
M R R H L A P D Y R V H I I S F K D P N p.300
. . . . . . g.17719
CCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATTGTGCTTTCCAACCCT c.960
P M H I D A T F N I I G P G I V L S N P p.320
. | 07 . . . . g.18964
GACCGACCATGTCACCAG | ATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCT c.1020
D R P C H Q | I D L F K K A G W T I I T P p.340
. . | 08 . . . . g.19804
CCAACACCAATCATCCCAGACG | ATCATCCACTCTGGATGTCATCCAAATGGCTTTCCATG c.1080
P T P I I P D D | H P L W M S S K W L S M p.360
. . . . . . g.19864
AATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAA c.1140
N V L M L D E K R V M V D A N E V P I Q p.380
. | 09 . . . . g.21602
AAGATGTTTGAAAAGCTGG | GTATCACTACCATTAAAGTTAACATTCGTAATGCCAATTCC c.1200
K M F E K L G | I T T I K V N I R N A N S p.400
. . . . . . g.21662
CTGGGAGGAGGCTTCCATTGCTGGACCTGCGATGTCCGGCGCCGAGGCACCTTACAGTCC c.1260
L G G G F H C W T C D V R R R G T L Q S p.420
. g.21674
TACTTGGACTGA c.1272
Y L D X p.423
. . . . . . g.21734
acaggcctgatggagcttgtggctggcctcagatacacctaagaagcttaggggcaaggt c.*60
. . . . . . g.21794
tcattctcctgctttaaaaagtgcatgaactgtagtgctttaaacaatcatctccttaac c.*120
. . . . . . g.21854
aggggtcgtaagcctggtttgcttctattacttttctttgacataaagaaaataacttct c.*180
. . . . . . g.21914
gctaggtattactctctactcctaaagttatttactatttggcttcaagtataaaatttt c.*240
. . . . . . g.21974
ggtgaatgtgtaccaagaaaaaattagtcacctgagtaacttggccactaataattaacc c.*300
. . . . . . g.22034
atctacctctgtttttaattttctttccaaaaggcagcttgaaatgttggtcctaatctt c.*360
. . . . . . g.22094
aattttttttcctcttctatagacttgagaatgtttttctctaaatgagagaaagactta c.*420
. . . . . . g.22154
gaatgtacacagatccaaaatagaatcagattatctctttttttctaaaggagagaaaga c.*480
. . . . . . g.22214
cttagaacatacacagatcctaagtagaaccaggtaattgtctctttttctaataaggaa c.*540
. . . . . . g.22274
tttgggtaatttttaattttttgttttttaaaaaataacctagactatgcaaaacatcaa c.*600
. . . . . . g.22334
agtgaattttccatgaatgtttttaatattctcatctcaacattgtgatatatgctacta c.*660
. . . . . . g.22394
aaaaccttttcatatacatcttacctcatttcaagtgaattattttaatctttttctctc c.*720
. . . . . . g.22454
tttccaaaaatttaggaatgtttagtgtaattggatttcgctatcagttcccatccttaa c.*780
. . . . . . g.22514
gttttgatattcaatatctgatagatacactgcatctttggtcatctaagatttgtttac c.*840
. . . . . . g.22574
aaatgtgcaaattatttagagcatagactttataagcattaaaaaaaactaatggaggta c.*900
. . . . . . g.22634
aaacctaaatgcgatgtgaaataattttagtgttgataccgtatgtgtatttttattcta c.*960
. . g.22659
ataaacttttgtgttccagattgaa c.*985
(downstream sequence)
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