(used for variant description)
(last modified September 23, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_000108.3 in the DLD gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering DLD transcript NM_000108.3.
(upstream sequence)
. . . . . g.5050
gatgacgtaggctgcgcctgtgcatgcgcagggaggggagaccttggcgg c.-61
. . . . . . g.5110
agcggcggaggcgcccagcggaggtgaaagtattggcggaaaggaaaatacagcggaaaa c.-1
. . . | 02 . . g.7080
ATGCAGAGCTGGAGTCGTGTGTACTGCTCCTTGGCCAAG | AGAGGCCATTTCAATCGAATA c.60
M Q S W S R V Y C S L A K | R G H F N R I p.20
. . . . . | 03 g.15599
TCTCATGGCCTACAGGGACTTTCTGCAGTGCCTCTGAGAACTTACGCAGATCAGCCGA | TT c.120
S H G L Q G L S A V P L R T Y A D Q P I | p.40
. . . . . . g.15659
GATGCTGATGTAACAGTTATAGGTTCTGGTCCTGGAGGATATGTTGCTGCTATTAAAGCT c.180
D A D V T V I G S G P G G Y V A A I K A p.60
. | 04 . . . . g.16226
GCCCAGTTAGGCTTCAAG | ACAGTCTGCATTGAGAAAAATGAAACACTTGGTGGAACATGC c.240
A Q L G F K | T V C I E K N E T L G G T C p.80
. . | 05. . . . g.17370
TTGAATGTTGGTTGTATTCCTTCTAAG | GCTTTATTGAACAACTCTCATTATTACCATATG c.300
L N V G C I P S K | A L L N N S H Y Y H M p.100
. . . | 06. . . g.18840
GCCCATGGAAAAGATTTTGCATCTAGAGGAATTGAAA | TGTCCGAAGTTCGCTTGAATTTA c.360
A H G K D F A S R G I E M | S E V R L N L p.120
. . . . . . g.18900
GACAAGATGATGGAGCAGAAGAGTACTGCAGTAAAAGCTTTAACAGGTGGAATTGCCCAC c.420
D K M M E Q K S T A V K A L T G G I A H p.140
. | 07 . . . . g.19262
TTATTCAAACAGAATAAG | GTTGTTCATGTCAATGGATATGGAAAGATAACTGGCAAAAAT c.480
L F K Q N K | V V H V N G Y G K I T G K N p.160
. . . . . . g.19322
CAAGTCACTGCTACGAAAGCTGATGGCGGCACTCAGGTTATTGATACAAAGAACATTCTT c.540
Q V T A T K A D G G T Q V I D T K N I L p.180
. . . . | 08 . . g.20144
ATAGCCACGGGTTCAGAAGTTACTCCTTTTCCTGGAATCACG | ATAGATGAAGATACAATA c.600
I A T G S E V T P F P G I T | I D E D T I p.200
. . . . . . g.20204
GTGTCATCTACAGGTGCTTTATCTTTAAAAAAAGTTCCAGAAAAGATGGTTGTTATTGGT c.660
V S S T G A L S L K K V P E K M V V I G p.220
. . | 09 . . . . g.29401
GCAGGAGTAATAGGTGTAGAATTG | GGTTCAGTTTGGCAAAGACTTGGTGCAGATGTGACA c.720
A G V I G V E L | G S V W Q R L G A D V T p.240
. . . . . . g.29461
GCAGTTGAATTTTTAGGTCATGTAGGTGGAGTTGGAATTGATATGGAGATATCTAAAAAC c.780
A V E F L G H V G G V G I D M E I S K N p.260
. . . . . . g.29521
TTTCAACGCATCCTTCAAAAACAGGGGTTTAAATTTAAATTGAATACAAAGGTTACTGGT c.840
F Q R I L Q K Q G F K F K L N T K V T G p.280
. . . | 10 . . . g.30678
GCTACCAAGAAGTCAGATGGAAAAATTGATGTTTC | TATTGAAGCTGCTTCTGGTGGTAAA c.900
A T K K S D G K I D V S | I E A A S G G K p.300
. . . . . . g.30738
GCTGAAGTTATCACTTGTGATGTACTCTTGGTTTGCATTGGCCGACGACCCTTTACTAAG c.960
A E V I T C D V L L V C I G R R P F T K p.320
. . . . . . g.30798
AATTTGGGACTAGAAGAGCTGGGAATTGAACTAGATCCCAGAGGTAGAATTCCAGTCAAT c.1020
N L G L E E L G I E L D P R G R I P V N p.340
. . | 11 . . . . g.31166
ACCAGATTTCAAACTAAAATTCCAAA | TATCTATGCCATTGGTGATGTAGTTGCTGGTCCA c.1080
T R F Q T K I P N | I Y A I G D V V A G P p.360
. . . . . . g.31226
ATGCTGGCTCACAAAGCAGAGGATGAAGGCATTATCTGTGTTGAAGGAATGGCTGGTGGT c.1140
M L A H K A E D E G I I C V E G M A G G p.380
. . . . . . g.31286
GCTGTGCACATTGACTACAATTGTGTGCCATCAGTGATTTACACACACCCTGAAGTTGCT c.1200
A V H I D Y N C V P S V I Y T H P E V A p.400
. . . | 12 . . . g.31807
TGGGTTGGCAAATCAGAAGAGCAGTTGAAAGAAGAG | GGTATTGAGTACAAAGTTGGGAAA c.1260
W V G K S E E Q L K E E | G I E Y K V G K p.420
. . . . . . g.31867
TTCCCATTTGCTGCTAACAGCAGAGCTAAGACAAATGCTGACACAGATGGCATGGTGAAG c.1320
F P F A A N S R A K T N A D T D G M V K p.440
. . . . . | 13 . g.32875
ATCCTTGGGCAGAAATCGACAGACAGAGTACTGGGAGCACATATTCTTGGACCA | GGTGCT c.1380
I L G Q K S T D R V L G A H I L G P | G A p.460
. . . . . . g.32935
GGAGAAATGGTAAATGAAGCTGCTCTTGCTTTGGAATATGGAGCATCCTGTGAAGATATA c.1440
G E M V N E A A L A L E Y G A S C E D I p.480
. . | 14 . . . . g.33089
GCTAGAGTCTGTCATGCACATCCG | ACCTTATCAGAAGCTTTTAGAGAAGCAAATCTTGCT c.1500
A R V C H A H P | T L S E A F R E A N L A p.500
. . . g.33119
GCGTCATTTGGCAAATCAATCAACTTTTGA c.1530
A S F G K S I N F X p.509
. . . . . . g.33179
attagaagattatatatatttttttctgaaatttcctgggagcttttgtagaagtcacat c.*60
. . . . . . g.33239
tcctgaacaggatattctcacagctccaagaatttctaggactgaattatgaaacttttg c.*120
. . . . . . g.33299
gaaggtatttaataggtttggacaaaatggaatactcttatatctatattttacataaat c.*180
. . . . . . g.33359
ttagtattttgtttcagtgcactaatgtgtaagacaaaaagctacttattgtagcatcct c.*240
. . . . . . g.33419
ggaatatctccgtcaactcatattttcatgctgttcatgaaagattcaatgcccctgaat c.*300
. . . . . . g.33479
ttaaatagcttttttctctgatacagaaaagttgaattttacatggctggagctagaatt c.*360
. . . . . . g.33539
tgatatgtgaacagttgtgtttgaagcacagtgatcaagttatttttaatttggttttca c.*420
. . . . . . g.33599
cattggaaacaagtcagtcattcagatatgattcaaatgtctataaaccgaactgatgta c.*480
. . . . . . g.33659
agtaaacggtctctcacttgttttatttaacctctaaattctttcattttaggggtagca c.*540
. . . . . . g.33719
tttgtgttgaagaggttttaaagcttccattgttgtctgcaactctgaagggtaattata c.*600
. . . . . . g.33779
tagttacccaaattaagagagtctatttacggaactcaaatacgtgggcattcaaatgta c.*660
. . . . . . g.33839
ttacagtggggaatgaagatactgaaataaacgtcttaaatattcatttactggttatca c.*720
. . . . . . g.33899
tgagtacgtgttgagatggtcatagttttttttatgactacttctagtgtatattctaat c.*780
. . . . . . g.33959
ttcttttctaggcctgaatgtatctttattttcatgttataggacaatattaaggcattt c.*840
. . . . . . g.34019
taaaggtcatcatcctttcatctattttagatacacctactaaatgtttaatatatactt c.*900
. . . . . . g.34079
ttggagaagtacaacataagggagtctttaatctgtgttttccttggctgggttaatgac c.*960
. . . . . . g.34139
tgtttatttaaagagtgttgtaaaattggatgtgtggtgtttaaaatggccatgtcctga c.*1020
. . . . . . g.34199
ggaaacttaagtaacaaagtactaaatgctaagtaggcttttgcatattgtaactaaatt c.*1080
. . . . . . g.34259
taagaataattcagattaagtagttctgaaatttggtatagatagcatagattgtctcat c.*1140
. . . . . . g.34319
gctcatgagtgacataatgaccctggattctgttacatacttctaaagaaaattgattgt c.*1200
. . . . . . g.34379
tgtcttaggaggcagttaacttggctgaacaccaactccacactctgtcttgtttgtagg c.*1260
. . . . . . g.34439
tggcagcagctgaaatctcttctcagttgttttagctttagctatgctgctggaagtctt c.*1320
. . . . . . g.34499
tcccatgcaagtgtgtagttcaggggtcaaccagagtttgggcagaaggaagtctgcccc c.*1380
. . . . . . g.34559
ttctgtgcctcctgttttttgggggtttcccctttatgttccagctgttgtggttgcccc c.*1440
. . . . . . g.34619
atattctgccttctgatccttaaccaataaaacttggcttttgtttccccctcaagtgag c.*1500
. . . . . . g.34679
aacccgttaaaaatgagacattgagccagtgctgttcactttttaagtgccaacttccct c.*1560
. . . . . . g.34739
ctactttccacttgtttatagttgtttccagtgcctttagttttttctaaaatatatttg c.*1620
. . . . . . g.34799
ttcagagtttgcagttgctatcagcaggagggttggtctgatatctgtgtgctactttgc c.*1680
. . . . . . g.34859
cattattggaagtgaactctgcatctttttaaaaatttgaaatcccggtatcatgtgaag c.*1740
. . . . . . g.34919
tgctgtttatgtaaatctcaacatatcccttactcagggaaaaaaaagtttttagttagg c.*1800
. . . . . . g.34979
gaatagtgaaatataatttaatatggaattctagctgtagagttaaatccatctttaagt c.*1860
. . . . . . g.35039
gtttacattcagtatgagaatgcaaatttatctgtatggggaataaagtcctaggaataa c.*1920
. g.35058
aacaagttttaagtgttca c.*1939
(downstream sequence)
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