(used for variant description)
(last modified December 29, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_018210.3 in the CARKD gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000013.10, covering CARKD transcript NM_018210.3.
(upstream sequence)
. . . g.5155
aatccggaatgctgcccgatggccctgggtc c.-61
. . . . . . g.5215
ctcgctgtggggcaatccgggcttgcagacgaggtaaggtcgattccatttggcccgggg c.-1
. . . . . . g.5275
ATGGTCACACGCGCGGGGGCCGGAACTGCCGTCGCCGGCGCGGTCGTTGTCGCATTGCTC c.60
M V T R A G A G T A V A G A V V V A L L p.20
. . . . | 02 . . g.11776
TCGGCCGCACTCGCGCTGTACGGGCCGCCACTGGACGCAG | TTTTAGAAAGAGCGTTTTCG c.120
S A A L A L Y G P P L D A V | L E R A F S p.40
. . . . . . g.11836
CTACGTAAAGCACATTCGATAAAGGATATGGAAAATACTTTGCAGCTGGTGAGAAATATC c.180
L R K A H S I K D M E N T L Q L V R N I p.60
. . . . . . g.11896
ATACCTCCTCTGTCTTCCACAAAGCACAAAGGGCAAGATGGAAGAATAGGCGTAGTTGGA c.240
I P P L S S T K H K G Q D G R I G V V G p.80
. | 03 . . . . | 04. g.14733
GGCTGTCAGGA | GTACACTGGAGCCCCATATTTTGCAGCAATCTCAGCTCTCAAAGTG | GGC c.300
G C Q E | Y T G A P Y F A A I S A L K V | G p.100
. . . . . . g.14793
GCAGACTTGTCCCACGTGTTCTGTGCCAGTGCGGCCGCACCTGTGATTAAGGCCTACAGC c.360
A D L S H V F C A S A A A P V I K A Y S p.120
. . | 05 . . . . g.17013
CCGGAGCTGATCGTCCACCCAGTTCT | TGACAGCCCCAATGCTGTTCATGAGGTGGAGAAG c.420
P E L I V H P V L | D S P N A V H E V E K p.140
. . . . . . g.17073
TGGCTGCCCCGGCTGCATGCTCTTGTCGTAGGACCTGGCTTGGGTAGAGATGATGCGCTT c.480
W L P R L H A L V V G P G L G R D D A L p.160
. | 06 . . . . . g.24130
CTCAGAAATGTCCAG | GGCATTTTGGAAGTGTCAAAGGCCAGGGACATCCCTGTTGTCATC c.540
L R N V Q | G I L E V S K A R D I P V V I p.180
| 07 . . . . . . g.24266
GACGCG | GATGGCCTGTGGCTGGTCGCTCAGCAGCCGGCCCTCATCCATGGCTACCGGAAG c.600
D A | D G L W L V A Q Q P A L I H G Y R K p.200
. . . . . | 08 . g.25017
GCTGTGCTCACTCCCAACCACGTGGAGTTCAGCAGACTGTATGACGCTGTG | CTCAGAGGC c.660
A V L T P N H V E F S R L Y D A V | L R G p.220
. . . . . . g.25077
CCTATGGACAGCGATGACAGCCATGGATCTGTGCTAAGACTCAGCCAAGCCCTGGGCAAC c.720
P M D S D D S H G S V L R L S Q A L G N p.240
. . . . . | 09 . g.26677
GTGACGGTGGTCCAGAAAGGAGAGCGCGACATCCTCTCCAACGGCCAGCAGG | TGCTTGTG c.780
V T V V Q K G E R D I L S N G Q Q V | L V p.260
. . . . . . g.26737
TGCAGCCAGGAAGGCAGCAGCCGCAGGTGTGGAGGGCAAGGGGACCTCCTGTCGGGCTCC c.840
C S Q E G S S R R C G G Q G D L L S G S p.280
. . . . . | 10 . g.27789
CTGGGCGTCCTGGTACACTGGGCGCTCCTTGCTGGACCACAGAAAACAAATGG | GGGCATA c.900
L G V L V H W A L L A G P Q K T N G | G I p.300
. . . . . . g.27849
TCAGACTTGAAATTGACAATTTGGGGTCCTGAGATTGAAACAGGAGTCAAAACCAGAGCC c.960
S D L K L T I W G P E I E T G V K T R A p.320
. . . . . . g.27909
CAGGGTAGCTGCGGCCCCCGGACCACGACGCCCACTTCCCCACACCTCCTGCTGTCCCCC c.1020
Q G S C G P R T T T P T S P H L L L S P p.340
. . . . . . g.27969
TCTCCGCAGGTCCAGCCCTCTCCTGGTGGCCGCGTTTGGCGCCTGCTCTCTCACCAGGCA c.1080
S P Q V Q P S P G G R V W R L L S H Q A p.360
. . . . . . g.28029
GTGCAACCACCAAGCCTTCCAGAAGCACGGTCGCTCCACCACCACCTCCGACATGATCGC c.1140
V Q P P S L P E A R S L H H H L R H D R p.380
. . . g.28062
CGAGGTGGGGGCCGCCTTCAGCAAGCTCTTTGA c.1173
R G G G R L Q Q A L X p.390
. . . . . . g.28122
aacctgagcccgcgcagaccagaagtaaacaggcaccttggacgggggagagcgtgtgtg c.*60
. . . . . . g.28182
tgatgggaaaatccggacccacgcgtgtgctgaaggcgtacggtgcttgccagattttca c.*120
. . . . . . g.28242
acttgagcataaattggttgccattgagaatttaagaatctggaatattgcagcttttgg c.*180
. . . . . . g.28302
ttaaacttaatgcatggttggagatgttatggcgacactaaacaaagtattcctgaactt c.*240
. . . . . . g.28362
tccttagctccttggtagtaactgggaagacagaaatgaagaaaatcacatgagaatgaa c.*300
. . . . . . g.28422
gaattctttagcagctcaacagagtttctcggcctgctcccagatcggcgaagtttctac c.*360
. . . . . . g.28482
ttgttactctctctgccggcgcccttcgttcctcctctgcttcccttccctagtctttcc c.*420
. . . . . . g.28542
tccggcagggagctgggcaggggtccccgggtgtctccctgagtcccgactgcactgact c.*480
. . . . . . g.28602
gggtccatcagagggctgcttcgttctccagctcatcttcttttaaagtggtgactagct c.*540
. . . . . . g.28662
tggtggtatctggctgctggtgtttggcttattgacatactccagggtaatcaatgatga c.*600
. . . . . . g.28722
ctttgtttggaaacccttttggaggcaccatgggaacagaaggaaacatgagtgacgctg c.*660
. . . . . . g.28782
acccttgagtgtgtgggtggggagctctgagacgcctcctgtcccacgctctccggtgtc c.*720
. . . . . . g.28842
cgtgtctacacaggggtccccatgatacccaccggccccagcagggcagaccggaccggg c.*780
. . . . . . g.28902
gacgggcacggtgaagggctgcagcctggggtctgacgtggcccctagtgctgtctcagg c.*840
. . . . . . g.28962
agaaggctctggaggacttgaggcatgctgggcctggtgcagtgatggcgctaaggagac c.*900
. . . . . . g.29022
ccggggaaagacagtatcgtggtcacgtatgcttaggaagcagcacagccgtgtccttag c.*960
. . . . . . g.29082
ggatgttcgcgtccagtaaagacactggtaactgcggtttcagccaacactcttcatggc c.*1020
. . . . . . g.29142
agtgtcgacctcgggttagcttctgttgtctttgtggatggttttcctggagcggcctga c.*1080
. . . . . . g.29202
cgttgacgtgttctctggtcccatgtcttagcggggcatggtacggtttcgtgcctgacg c.*1140
. . . . . . g.29262
cgtgcattagggtgttctcttatactttcagtagcatctttccacagcaagggccaaacc c.*1200
. . . . . . g.29322
ctcctggttcccttcagagtctttttggcctgatgatgactcttgagtgataccctgtga c.*1260
. . . . . . g.29382
tgcagacatgccccagatggattctactttctttaaaactagggactttcaagattaaaa c.*1320
. . . . . . g.29442
aaaagattgtcactactaatttgacgcctaacttcagaagcttcactgtctacatgtgaa c.*1380
. . . . . . g.29502
cttttccagaaaaactgtgccatggacatttttcctctggggaattaacatctaaattct c.*1440
. . . g.29537
ggtaactattaaaagacagatctggttaatttaaa c.*1475
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 25b
©2004-2020 Leiden University Medical Center