Canonical Allele Identifier: CA303940
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 199916
dbSNP Id: rs794728137

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7565509dup , CM000668.2:g.7565509dup GRCh38
NC_000006.11:g.7565742dup , CM000668.1:g.7565742dup GRCh37
NC_000006.10:g.7510741dup NCBI36
NG_008803.1:g.28873dup , LRG_423:g.28873dup

Transcript Alleles

HGVS Amino-acid change
ENST00000379802.8:c.928dup MANE Select ENSP00000369129.3:p.Glu310GlyfsTer13
ENST00000379802.7:c.928dup ENSP00000369129.3:p.Glu310GlyfsTer13
ENST00000418664.2:c.928dup ENSP00000396591.2:p.Glu310GlyfsTer13
NM_001008844.1:c.928dup NP_001008844.1:p.Glu310GlyfsTer13
NM_004415.2:c.928dup , LRG_423t1:c.928dup NP_004406.2:p.Glu310GlyfsTer13
XM_011514323.1:c.928dup XP_011512625.1:p.Glu310GlyfsTer13
NM_001008844.2:c.928dup NP_001008844.1:p.Glu310GlyfsTer13
NM_001319034.1:c.928dup NP_001305963.1:p.Glu310GlyfsTer13
NM_004415.3:c.928dup NP_004406.2:p.Glu310GlyfsTer13
NM_004415.4:c.928dup MANE Select NP_004406.2:p.Glu310GlyfsTer13
NM_001008844.3:c.928dup NP_001008844.1:p.Glu310GlyfsTer13
NM_001319034.2:c.928dup NP_001305963.1:p.Glu310GlyfsTer13