(used for variant description)
(last modified February 2, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_015533.3 in the DAK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering DAK transcript NM_015533.3.
(upstream sequence)
. g.5017
aaccgaaggaggccccg c.-241
. . . . . . g.5077
cccccggaggcaccgcctcgcctctttccgccagcgcccgcaggacccggatgagagcgc c.-181
. . . . . . g.5137
acgcttcggggtctccgggaagtcgcggcgccttcggatgtggcggatgcggccgtgagc c.-121
. . | 02 . . . . g.6487
cggcgggggag | gtgctgctgctgcctccactgtactcagacccaggtagcacaggattgt c.-61
. . . . . . g.6547
ccatcctccagcagctcagtgcaacggtgtgaactcagcctgtttcagagcctccacacc c.-1
| 03 . . . . . . g.9816
ATG | ACCTCCAAGAAGCTGGTGAACTCGGTGGCTGGCTGTGCTGATGACGCTCTTGCTGGC c.60
M | T S K K L V N S V A G C A D D A L A G p.20
. . . . . . g.9876
CTGGTGGCCTGCAACCCCAACCTGCAGCTCCTGCAGGGCCACCGCGTGGCCCTCCGTTCT c.120
L V A C N P N L Q L L Q G H R V A L R S p.40
. . . . . . g.9936
GACCTGGACAGCCTCAAGGGCCGGGTGGCACTGCTGTCGGGTGGGGGCTCTGGCCATGAG c.180
D L D S L K G R V A L L S G G G S G H E p.60
. | 04 . . . . . g.10931
CCTGCCCATGCTG | GTTTCATAGGGAAGGGGATGCTGACTGGGGTCATCGCGGGAGCTGTG c.240
P A H A G | F I G K G M L T G V I A G A V p.80
. . . . . . g.10991
TTCACCTCCCCGGCAGTGGGCAGCATCCTGGCAGCCATCAGGGCCGTGGCCCAGGCCGGC c.300
F T S P A V G S I L A A I R A V A Q A G p.100
| 05 . . . . . . g.11128
ACAG | TGGGGACGCTCCTTATCGTGAAGAACTACACTGGGGATCGGCTCAACTTCGGCCTG c.360
T V | G T L L I V K N Y T G D R L N F G L p.120
. . . . . . g.11188
GCCCGGGAGCAGGCCCGGGCTGAAGGCATCCCGGTGGAGATGGTGGTGATTGGGGACGAC c.420
A R E Q A R A E G I P V E M V V I G D D p.140
. . . . . . g.11248
AGCGCCTTCACTGTCCTGAAGAAGGCAGGCCGGCGGGGGCTGTGCGGCACGGTGCTTATA c.480
S A F T V L K K A G R R G L C G T V L I p.160
| 06 . . . . . . g.13308
CACAAG | GTGGCAGGTGCTCTGGCTGAGGCTGGTGTGGGGCTGGAGGAGATCGCAAAGCAG c.540
H K | V A G A L A E A G V G L E E I A K Q p.180
. . | 07 . . . . g.13676
GTGAACGTGGTCGCCAAGGCCATGG | GTACCCTGGGGGTGAGCTTATCCTCCTGCAGCGTC c.600
V N V V A K A M G | T L G V S L S S C S V p.200
. . . . . | 08 . g.14284
CCTGGTTCCAAACCCACCTTCGAGCTCTCAGCCGACGAGGTGGAGCTGGGCCTGG | GGATC c.660
P G S K P T F E L S A D E V E L G L G | I p.220
. . . | 09 . . . g.14422
CACGGGGAAGCTGGTGTGCGCCGGATAAAG | ATGGCAACCGCCGATGAGATTGTGAAACTC c.720
H G E A G V R R I K | M A T A D E I V K L p.240
. . . . . | 10 . g.14578
ATGCTCGACCACATGACAAACACCACCAACGCGTCCCATGTGCCTGTGCAGCCCG | GCTCC c.780
M L D H M T N T T N A S H V P V Q P G | S p.260
. . . . . . g.14638
TCAGTTGTGATGATGGTCAACAACCTGGGTGGCCTGTCATTCCTGGAACTGGGCATCATA c.840
S V V M M V N N L G G L S F L E L G I I p.280
. . | 11 . . . . g.15195
GCCGACGCTACCGTCCGCTCCCTGG | AGGGCCGCGGGGTGAAGATTGCCCGTGCCCTGGTG c.900
A D A T V R S L E | G R G V K I A R A L V p.300
. . . . . . g.15255
GGCACCTTCATGTCAGCACTGGAGATGCCTGGCATTTCTCTCACCCTCCTGCTGGTGGAT c.960
G T F M S A L E M P G I S L T L L L V D p.320
. . | 12 . . . . g.15712
GAGCCTCTCCTGAAACTGATAG | ATGCTGAAACCACTGCAGCAGCCTGGCCTAACGTGGCT c.1020
E P L L K L I D | A E T T A A A W P N V A p.340
. . . . . . g.15772
GCAGTCTCCATTACTGGGCGGAAGCGGAGCCGGGTAGCCCCTGCCGAGCCCCAGGAGGCC c.1080
A V S I T G R K R S R V A P A E P Q E A p.360
. . | 13 . . . . g.15992
CCTGATTCCACTGCTGCAGGAG | GCTCAGCCTCGAAGCGGATGGCGCTGGTGCTGGAACGG c.1140
P D S T A A G G | S A S K R M A L V L E R p.380
. . . . . . g.16052
GTGTGCAGCACTCTCCTGGGCCTGGAGGAACACCTGAATGCCCTGGACCGGGCTGCTGGT c.1200
V C S T L L G L E E H L N A L D R A A G p.400
. . . . | 14 . . g.17098
GACGGCGACTGTGGCACCACCCACAGCCGTGCGGCCAGAG | CAATCCAGGAGTGGCTGAAG c.1260
D G D C G T T H S R A A R A | I Q E W L K p.420
. . . . . . g.17158
GAGGGCCCACCCCCTGCCAGCCCTGCCCAGCTGCTCTCCAAGTTGTCTGTCCTGCTCCTG c.1320
E G P P P A S P A Q L L S K L S V L L L p.440
. . | 15. . . . g.17313
GAGAAGATGGGAGGCTCATCTGGGGCG | CTCTATGGCCTGTTCCTGACTGCGGCTGCACAG c.1380
E K M G G S S G A | L Y G L F L T A A A Q p.460
. . . . . . g.17373
CCCCTGAAGGCCAAGACCAGCCTCCCAGCCTGGTCTGCTGCCATGGATGCCGGCCTGGAA c.1440
P L K A K T S L P A W S A A M D A G L E p.480
. | 16 . . . | 17 . . g.17690
GCCATGCAGAA | GTATGGCAAGGCTGCTCCAGGGGACAGGACTATG | CTGGATTCTCTGTGG c.1500
A M Q K | Y G K A A P G D R T M | L D S L W p.500
. . . . . . g.17750
GCAGCGGGGCAGGAGCTCCAAGCCTGGAAGAGCCCAGGAGCTGATCTGTTACAAGTCCTG c.1560
A A G Q E L Q A W K S P G A D L L Q V L p.520
. | 18 . . . . . g.18214
ACCAAAGCAGTCAAG | AGTGCCGAAGCTGCAGCCGAGGCCACCAAGAATATGGAAGCTGGA c.1620
T K A V K | S A E A A A E A T K N M E A G p.540
. . . . . . g.18274
GCCGGAAGAGCCAGTTATATCAGCTCAGCACGGCTGGAGCAGCCAGACCCCGGGGCGGTG c.1680
A G R A S Y I S S A R L E Q P D P G A V p.560
. . . . g.18322
GCAGCTGCTGCCATCCTCCGGGCCATCTTGGAGGTCTTGCAGAGCTAG c.1728
A A A A I L R A I L E V L Q S X p.575
. . . . . . g.18382
ggtgtgtgactgcctcccttggcctcagctcctctcactgctgtgctgaggtggcctttg c.*60
. . . . . . g.18442
tcacttccttctgccttccaaccctcaccttcccccggcctggccccattggcccaccct c.*120
. . . . . . g.18502
ctaagttgagcaggaaatcctccaccaagcttccagaactacagacagcacccagagtga c.*180
. . . . . . g.18562
gctggagtgggtccccatgcctctccagcatgccctttccctttgcaggagggtggagtc c.*240
. . . . . . g.18622
cctgggtcatgccctcccctgccagctctgggcttcagagataaggcattttccttgtgc c.*300
. . . . . . g.18682
agcctttacctggcaatcctaatttggttttaagactccctgtgaaatgctttccgcacc c.*360
. . . . . . g.18742
ttaaccccagtgagcgtgaaaaagaaagttaataaactataatacatggaagcaagaaag c.*420
. . . . . . g.18802
acactgcctcctctgagggaccttttcccaagcatgtaaacaagggggcccacagccctg c.*480
. . . . . . g.18862
gctgcaggcatcatgacccatcttctaccaggcagatctttattacctgagcccctaagg c.*540
. . . . . . g.18922
cagtgtctcctcagctgggctgcttccactgagacccccgacccatcccctttccagtac c.*600
. . . . . . g.18982
acacacctgatgcatgtaagaatggtagaggggcttttcttagcattgaattaataattc c.*660
. . . . . . g.19042
agtggctcctcgggagtcgaatgggcatttgggacaccagaaggaaaagaaatcatcata c.*720
. . . . . . g.19102
gtctaaggttcagttgtagatcaaaaaatgcagccaggccgggcacggtggctcacacct c.*780
. . . . . . g.19162
gcaatcccagcactttgggaggccaaggcaggcggatcccttacactcaggagttcaaga c.*840
. . . . . . g.19222
ccagtctgggcaacatggtaaaaccctgtctctaccaaaaaatacaaaattagccaggca c.*900
. . . . . . g.19282
tagtagtgtgtgcctatagtcctaacttgggaggctgagttgggaggatggcttgggccc c.*960
. . . . . . g.19342
aggaggtcgaggctgcggtgagccataagcatgccactatactccagcctgggcaacaaa c.*1020
. . . . . . g.19402
gcgagaccctgtctcaaaaaaaaaaaaaaaaaaaaaagaaactgcagccaagccagcccc c.*1080
. . . . . . g.19462
taggtctctttctagagcgatcactgatggcaccagggtgagcaggggcactgtatgcat c.*1140
. . . . . . g.19522
gtggagacaaacagcacatgcctggcacacatgtagggtagggagtggttaaaggcactg c.*1200
. . . . . . g.19582
gctgtcgactcatacacatgatctgaaatctgattctgctttaacccggctacaggagct c.*1260
. . . . . . g.19642
aaggcctattttttagccctttgggatctgtaaaatcagaatggtacccacctcatgggg c.*1320
. . . . . . g.19702
acatgaaaggattcaaatgaattgatgaagatgggccataaagcccagcacagtccaagt c.*1380
. . . . . . g.19762
gctcactcactgagagttacggttatcacaggggttgggcccccagcccctcccaggtca c.*1440
. . . . . . g.19822
tctgctctaccactagctggtaggaaagagcctcctgccctcccaacccccgtcacctac c.*1500
. . . . . . g.19882
ttggcccaaatttggctgcaggctccccgagtgcctgggcttctctacccagggtcctgt c.*1560
. . . . . . g.19942
ctgtcggctgcaccatacgtccctgaccacaaggcatccacgtgcacaggagtatgcgcc c.*1620
. . . . . . g.20002
cagcagctgggaaggaggctgacctcagacggtggcctgtggatcccagctctgtcattt c.*1680
. . . . . . g.20062
cctggctgggtgacctcaacctagtcaccctttttgagtcttgttttctcagattatgaa c.*1740
. . . . . . g.20122
ataggaaaaatttccttcctcgtgagataagcacgtgccattagctattaaggacacgca c.*1800
. . . . . . g.20182
cataaatgagctgcatgtgaatccacacatgccattccatgaagacagaggatcatgtgg c.*1860
. . . . . . g.20242
atctttggtgccttccggttggcccctccctaggtctgtgagggtcagacctgtcctgag c.*1920
. . . . . . g.20302
gcttttacaaattggcccagaactcatttaaccacagcatcatttcattagagggctgtt c.*1980
. . . . . . g.20362
attagagactgaatgtttgtgtcccccccaaattcctgtgttgaaaggctcacccccact c.*2040
. . . . . . g.20422
atggtagtgttaggacgtggggcctttgggaggtgatggggttatgagggtggagcccca c.*2100
. . . . . . g.20482
gagagctctcacgccctttccaccatgtgaggttatggtgagaagatggtctctgaggaa c.*2160
. . . . . . g.20542
gctggcccttgccacacaccacatttgccagcgccttcatcttggatgtctatagcctcc c.*2220
. . . g.20578
agaactgtgagaaataaacacttgttgtttaagcca c.*2256
(downstream sequence)
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