(used for variant description)
(last modified September 24, 2026)
This file was created to facilitate the description of sequence variants on transcript NM_004393.5 in the DAG1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering DAG1 transcript NM_004393.5.
(upstream sequence)
. . . . . g.6487
aggcagaagccggcggcgcgcggacagccagtcggcgccgcgcggagctggccgctgg c.-361
. . . . . . g.6547
attggctgcaacactcgcgtgtcaggcggttgctaggctccggccgcgcgccccgccctt c.-301
. . . . . . g.6607
gcgctcagcgccctctcaccgcccggtacgtgctcgcgcgaaggctgcggcgcggcgctc c.-241
. . . . . . g.6667
gcgcctcttaggcttggcggtggcggcggcggcagcttcgcgccgaatccccggggagcg c.-181
. . . . . . g.6727
gcggtggcggcgtcctggggccaggaggagcgaacacctgccgcggtcctcccgccggcg c.-121
. | 02 . . . . . g.46772
ctgg | gctctgtgtgctccgggatggagcaggtgtgcagagggtgagaacccagctctggg c.-61
. . . . . . g.46832
accaagtcacttgcttccttacttagcaagactatcgacttgagcaaacttggacctggg c.-1
. . . . . . g.46892
ATGAGGATGTCTGTGGGCCTCTCGCTGCTGCTGCCCCTCTCGGGGAGGACCTTTCTCCTC c.60
M R M S V G L S L L L P L S G R T F L L p.20
. . . . . . g.46952
CTGCTCTCTGTGGTTATGGCTCAGTCCCACTGGCCCAGTGAACCCTCAGAGGCTGTCAGG c.120
L L S V V M A Q S H W P S E P S E A V R p.40
. . . . . . g.47012
GACTGGGAAAACCAGCTTGAGGCATCCATGCACTCAGTGCTCTCAGACCTCCACGAGGCT c.180
D W E N Q L E A S M H S V L S D L H E A p.60
. . . . . . g.47072
GTTCCCACAGTGGTTGGCATTCCTGATGGCACGGCTGTCGTCGGGCGCTCATTTCGAGTG c.240
V P T V V G I P D G T A V V G R S F R V p.80
. . . . | 03 . . g.67109
ACCATTCCAACAGATTTGATTGCCTCCAGTGGAGATATCATCAAG | GTATCAGCGGCAGGG c.300
T I P T D L I A S S G D I I K | V S A A G p.100
. . . . . . g.67169
AAGGAGGCTTTGCCATCTTGGCTGCACTGGGACTCACAGAGCCACACCCTGGAGGGCCTC c.360
K E A L P S W L H W D S Q S H T L E G L p.120
. . . . . . g.67229
CCCCTTGACACTGATAAGGGTGTGCATTACATTTCAGTGAGCGCTACACGGCTGGGGGCC c.420
P L D T D K G V H Y I S V S A T R L G A p.140
. . . . . . g.67289
AACGGGAGCCACATCCCCCAGACCTCCAGTGTGTTCTCCATCGAGGTCTACCCTGAAGAC c.480
N G S H I P Q T S S V F S I E V Y P E D p.160
. . . . . . g.67349
CACAGTGAGCTGCAGTCGGTGAGGACAGCCTCCCCAGACCCTGGTGAGGTGGTATCATCT c.540
H S E L Q S V R T A S P D P G E V V S S p.180
. . . . . . g.67409
GCCTGTGCTGCGGATGAACCTGTGACTGTTTTGACGGTGATTTTGGATGCCGACCTCACC c.600
A C A A D E P V T V L T V I L D A D L T p.200
. . . . . . g.67469
AAGATGACCCCAAAGCAAAGGATTGACCTCCTGCACAGGATGCGGAGCTTCTCAGAAGTA c.660
K M T P K Q R I D L L H R M R S F S E V p.220
. . . . . . g.67529
GAGCTTCACAACATGAAATTAGTGCCGGTGGTGAATAACAGACTATTTGACATGTCGGCC c.720
E L H N M K L V P V V N N R L F D M S A p.240
. . . . . . g.67589
TTCATGGCTGGCCCGGGAAATGCAAAAAAGGTGGTGGAGAATGGGGCCCTTCTCTCCTGG c.780
F M A G P G N A K K V V E N G A L L S W p.260
. . . . . . g.67649
AAGCTGGGCTGCTCCCTGAACCAGAACAGTGTGCCTGACATTCATGGTGTAGAGGCCCCT c.840
K L G C S L N Q N S V P D I H G V E A P p.280
. . . . . . g.67709
GCCAGGGAGGGCGCAATGTCTGCTCAGCTTGGCTACCCTGTGGTGGGTTGGCACATCGCC c.900
A R E G A M S A Q L G Y P V V G W H I A p.300
. . . . . . g.67769
AATAAGAAGCCCCCTCTTCCCAAACGCGTCCGGAGGCAGATCCATGCTACACCCACACCT c.960
N K K P P L P K R V R R Q I H A T P T P p.320
. . . . . . g.67829
GTCACTGCCATTGGGCCCCCAACCACGGCTATCCAGGAGCCCCCATCCAGGATCGTGCCA c.1020
V T A I G P P T T A I Q E P P S R I V P p.340
. . . . . . g.67889
ACCCCCACATCTCCAGCCATTGCTCCTCCAACAGAGACCATGGCTCCTCCAGTCAGGGAT c.1080
T P T S P A I A P P T E T M A P P V R D p.360
. . . . . . g.67949
CCTGTTCCTGGGAAACCCACGGTCACCATCCGGACTCGAGGCGCCATTATTCAAACCCCA c.1140
P V P G K P T V T I R T R G A I I Q T P p.380
. . . . . . g.68009
ACCCTAGGCCCCATCCAGCCTACTCGGGTGTCAGAAGCTGGCACCACAGTTCCTGGCCAG c.1200
T L G P I Q P T R V S E A G T T V P G Q p.400
. . . . . . g.68069
ATTCGCCCAACGATGACCATTCCTGGCTATGTGGAGCCTACTGCAGTTGCTACCCCTCCC c.1260
I R P T M T I P G Y V E P T A V A T P P p.420
. . . . . . g.68129
ACAACCACCACCAAGAAGCCACGAGTATCCACACCAAAACCAGCAACGCCTTCAACTGAC c.1320
T T T T K K P R V S T P K P A T P S T D p.440
. . . . . . g.68189
TCCACCACCACCACGACTCGCAGGCCAACCAAGAAACCACGGACACCCCGGCCAGTGCCC c.1380
S T T T T T R R P T K K P R T P R P V P p.460
. . . . . . g.68249
CGGGTCACCACCAAAGTTTCCATCACCAGATTGGAAACTGCCTCACCGCCTACTCGTATT c.1440
R V T T K V S I T R L E T A S P P T R I p.480
. . . . . . g.68309
CGCACCACCACCAGTGGAGTGCCCCGTGGCGGAGAACCCAACCAGCGCCCAGAGCTCAAG c.1500
R T T T S G V P R G G E P N Q R P E L K p.500
. . . . . . g.68369
AACCATATTGACAGGGTAGATGCCTGGGTTGGCACCTACTTTGAGGTGAAGATCCCGTCA c.1560
N H I D R V D A W V G T Y F E V K I P S p.520
. . . . . . g.68429
GACACTTTCTATGACCATGAGGACACCACCACTGACAAGCTGAAGCTGACCCTGAAACTG c.1620
D T F Y D H E D T T T D K L K L T L K L p.540
. . . . . . g.68489
CGGGAGCAGCAGCTGGTGGGCGAGAAGTCCTGGGTACAGTTCAACAGCAACAGCCAGCTC c.1680
R E Q Q L V G E K S W V Q F N S N S Q L p.560
. . . . . . g.68549
ATGTATGGCCTTCCCGACAGCAGCCACGTGGGCAAACACGAGTATTTCATGCATGCCACA c.1740
M Y G L P D S S H V G K H E Y F M H A T p.580
. . . . . . g.68609
GACAAGGGGGGCCTGTCGGCTGTGGATGCCTTCGAGATCCACGTCCACAGGCGCCCCCAA c.1800
D K G G L S A V D A F E I H V H R R P Q p.600
. . . . . . g.68669
GGGGATAGGGCTCCTGCAAGGTTCAAGGCCAAGTTTGTGGGTGACCCGGCACTGGTGTTG c.1860
G D R A P A R F K A K F V G D P A L V L p.620
. . . . . . g.68729
AATGACATCCACAAGAAGATTGCCTTGGTAAAGAAACTGGCCTTCGCCTTTGGAGACCGA c.1920
N D I H K K I A L V K K L A F A F G D R p.640
. . . . . . g.68789
AACTGTAGCACCATCACCCTGCAGAATATCACCCGGGGCTCCATCGTGGTGGAATGGACC c.1980
N C S T I T L Q N I T R G S I V V E W T p.660
. . . . . . g.68849
AACAACACACTGCCCTTGGAGCCCTGCCCCAAGGAGCAGATCGCTGGGCTGAGCCGCCGG c.2040
N N T L P L E P C P K E Q I A G L S R R p.680
. . . . . . g.68909
ATCGCTGAGGATGATGGAAAACCTCGGCCTGCCTTCTCCAACGCCCTAGAGCCTGACTTT c.2100
I A E D D G K P R P A F S N A L E P D F p.700
. . . . . . g.68969
AAGGCCACAAGCATCACTGTGACGGGCTCTGGCAGTTGTCGGCACCTACAGTTTATCCCT c.2160
K A T S I T V T G S G S C R H L Q F I P p.720
. . . . . . g.69029
GTGGTACCACCCAGGAGAGTGCCCTCAGAGGCGCCGCCCACAGAAGTGCCTGACAGGGAC c.2220
V V P P R R V P S E A P P T E V P D R D p.740
. . . . . . g.69089
CCTGAGAAGAGCAGTGAGGATGATGTCTACCTGCACACAGTCATTCCGGCCGTGGTGGTC c.2280
P E K S S E D D V Y L H T V I P A V V V p.760
. . . . . . g.69149
GCAGCCATCCTGCTCATTGCTGGCATCATTGCCATGATCTGCTACCGCAAGAAGCGGAAG c.2340
A A I L L I A G I I A M I C Y R K K R K p.780
. . . . . . g.69209
GGCAAGCTTACCCTTGAGGACCAGGCCACCTTCATCAAGAAGGGGGTGCCTATCATCTTT c.2400
G K L T L E D Q A T F I K K G V P I I F p.800
. . . . . . g.69269
GCAGACGAACTGGACGACTCCAAGCCCCCACCCTCCTCCAGCATGCCACTCATTCTGCAG c.2460
A D E L D D S K P P P S S S M P L I L Q p.820
. . . . . . g.69329
GAGGAGAAGGCTCCCCTACCCCCTCCTGAGTACCCCAACCAGAGTGTGCCCGAGACCACT c.2520
E E K A P L P P P E Y P N Q S V P E T T p.840
. . . . . . g.69389
CCTCTGAACCAGGACACCATGGGAGAGTACACGCCCCTGCGGGATGAGGATCCCAATGCG c.2580
P L N Q D T M G E Y T P L R D E D P N A p.860
. . . . . . g.69449
CCTCCCTACCAGCCCCCACCGCCCTTCACAGCACCCATGGAGGGCAAGGGCTCCCGTCCC c.2640
P P Y Q P P P P F T A P M E G K G S R P p.880
. . . . g.69497
AAGAACATGACCCCATACCGGTCACCTCCTCCCTATGTCCCACCTTAA c.2688
K N M T P Y R S P P P Y V P P X p.895
. . . . . . g.69557
cccgcaagcgcctgggtggaggcagggtagggcaggggcctggagacgacatggtgttgt c.*60
. . . . . . g.69617
ctgtggagaccggtggcctgcagaccattgcccaccgggagccgacacctgacctagcac c.*120
. . . . . . g.69677
acactgacacaggggcctggacaagcccgccctctctggtcctcccaaaccccaaagcag c.*180
. . . . . . g.69737
ctggagagactttggggacttttttatttttattttttgcctaacagcttttggtttgtt c.*240
. . . . . . g.69797
catagagaattcttcgcttcatttttgatggctggctctgaaagcaccatgtggagtgga c.*300
. . . . . . g.69857
ggtggagggagcgaggaaccatgaatgaactcgcaggcagtgccgggcggccccctggct c.*360
. . . . . . g.69917
ctctgcgttttgcctttaacactaactgtactgttttttctattcacgtgtgtctagctg c.*420
. . . . . . g.69977
caggatgtaacatggaaaacagtaactaaagattaaattcaaaggactttcagaagttaa c.*480
. . . . . . g.70037
ggttaagtttttacgtttaatctgctgtttacctaaacttgtatgtataatttttgggtg c.*540
. . . . . . g.70097
ggtatggggaattgctttgctaaaaataagctcccagggtgtttcaaacttagagaagac c.*600
. . . . . . g.70157
caagggacagtattttttatcaaaggaatactattttttcacactacgtcaacttggttg c.*660
. . . . . . g.70217
ctctgataccccagagcctgattgggggcctcccggccctggctcacgccaagtccctgg c.*720
. . . . . . g.70277
tgctgggtttgctctcccgctgttgccaggggctggaagctggaggggtctcttgggcca c.*780
. . . . . . g.70337
tggacatccccacttccagcccatgtacactagtggcccacgaccaaggggtcttcattt c.*840
. . . . . . g.70397
ccatgaaaaagggactccaagaggcagtggtggctgtggcccccaactttggtgctccag c.*900
. . . . . . g.70457
ggtgggccagctgcttgtgggggcacctgggaggtcaaaggtctccaccacatcaaccta c.*960
. . . . . . g.70517
ttttgttttaccctttttctgtgcattgtttttttttttcctcctaaaaggaatatcacg c.*1020
. . . . . . g.70577
gttttttgaaacactcagtgggggacattttggtgaagatgcaatatttttatgtcatgt c.*1080
. . . . . . g.70637
gatgctctttcctcacttgaccttggccgctttgtcctaacagtccacagtcctgccccg c.*1140
. . . . . . g.70697
acccaccccatcccttttctctggcactccagtcccaggccttgggcctgaactactgga c.*1200
. . . . . . g.70757
aaaggtctggcggctggggaggagtgccagcaatagttcataataaaaatctgttagctc c.*1260
. . . . . . g.70817
tcaaagctaattttttactaaagtttttatacagcctcaaattgttttattaaaaaaaag c.*1320
. . . . . . g.70877
atttaaaatggtgatgcttacagcagtttgtacgagctcttaagtgttgattccatggaa c.*1380
. . . . . . g.70937
ctgacggctttgcttgttttgattcttttccccctacttttcctaatggtttaaattctg c.*1440
. . . . . . g.70997
gaattacactggggttcttttgccttttttagcagaacatccgtccgtccatctgcatct c.*1500
. . . . . . g.71057
ctgtcccatgactcaggggcgcccactctgcttcgattctcctcctgtggaagaaaccat c.*1560
. . . . . . g.71117
tttgagcatgacttttcttgatgtctgaagcgttattttgggtactttttagggaggaat c.*1620
. . . . . . g.71177
gcctttcgcaataatgtatccattccctgattgagggtgggtgggtggacccaggctccc c.*1680
. . . . . . g.71237
tttgcacacagagcagctacttctaagccatatcgactgttttgcagaggatttgtgtgt c.*1740
. . . . . . g.71297
gctgcctcaggaggggagggctggtaggagggggggagaggtctctgtcctactgctctc c.*1800
. . . . . . g.71357
cagagggcatttccccttgcgccttctcccacagggcccagcccctctcccctgccccag c.*1860
. . . . . . g.71417
tccccagggggtactctggagtgagcagtgcccctgtgggggagcctgtaaatgcgggct c.*1920
. . . . . . g.71477
cagtggaccactggtgactgggctcatgcctccaagtcagagtttccctggtgccccaga c.*1980
. . . . . . g.71537
gacaggagcacaagtgggatctgacctggtgagattatttctgatgacctcatcaaaaaa c.*2040
. . . . . . g.71597
taaacaattcccaatgttccaggtgagggctttgaaaggccttccaaacagctccgtcgc c.*2100
. . . . . . g.71657
ccctagcaactccaccattgggcactgccatgcagagacgtggctggcccagaatggcct c.*2160
. . . . . . g.71717
gttgccatagcaactggaggcgatggggcagtgaacagaataacaacagcaacaatgcct c.*2220
. . . . . . g.71777
ttgcaggcagcctgctcccctgagcgctgggctggtgatggtcgttggactctgtgagat c.*2280
. . . . . . g.71837
ggagagccaatctcacattcaagtgttcaccaaccactgatgtgtttttatttccttcta c.*2340
. . . . . . g.71897
tatgattttaagatgtgttttctgcattctgtaaagaaacatatcaaactaaataaaagc c.*2400
. g.71916
agtgtctttattacaacgc c.*2419
(downstream sequence)
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