Canonical Allele Identifier: CA303940

Gene: DSP

Linked Data

• ClinVar Variation Id: 199916
• ClinVar RCV Id: RCV000181358 ; RCV000477886 ; RCV000559042
• dbSNP Id: rs794728137
• gnomAD v4: 6-7565507-A-AG
• MyVariant Identifiers: chr6:g.7565742dupG (hg19) ; chr6:g.7565509dupG (hg38)

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
ENST00000710359.1:c.928dup	ENSP00000518230.1:p.Glu310GlyfsTer13
ENST00000682228.1:n.252dup
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
ENST00000506617.1:n.446dup
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