Canonical Allele Identifier: CA1608606548

Gene: DSP

Linked Data

• ClinVar Variation Id: 1034083
• ClinVar RCV Id: RCV001336685 ; RCV002547358
• dbSNP Id: rs1759489644

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7582926_7582929del , CM000668.2:g.7582926_7582929del	GRCh38
NC_000006.11:g.7583159_7583162del , CM000668.1:g.7583159_7583162del	GRCh37
NC_000006.10:g.7528158_7528161del	NCBI36
NG_008803.1:g.46290_46293del , LRG_423:g.46290_46293del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4335_4338del	ENSP00000518230.1:p.Ser1445ArgfsTer?
ENST00000379802.8:c.5664_5667del MANE Select	ENSP00000369129.3:p.Ser1888ArgfsTer?
ENST00000379802.7:c.5664_5667del	ENSP00000369129.3:p.Ser1888ArgfsTer?
ENST00000418664.2:c.3867_3870del	ENSP00000396591.2:p.Ser1289ArgfsTer?
NM_001008844.1:c.3867_3870del	NP_001008844.1:p.Ser1289ArgfsTer?
NM_004415.2:c.5664_5667del , LRG_423t1:c.5664_5667del	NP_004406.2:p.Ser1888ArgfsTer?
XM_011514323.1:c.4335_4338del	XP_011512625.1:p.Ser1445ArgfsTer?
NM_001008844.2:c.3867_3870del	NP_001008844.1:p.Ser1289ArgfsTer?
NM_001319034.1:c.4335_4338del	NP_001305963.1:p.Ser1445ArgfsTer?
NM_004415.3:c.5664_5667del	NP_004406.2:p.Ser1888ArgfsTer?
NM_004415.4:c.5664_5667del MANE Select	NP_004406.2:p.Ser1888ArgfsTer?
NM_001008844.3:c.3867_3870del	NP_001008844.1:p.Ser1289ArgfsTer?
NM_001319034.2:c.4335_4338del	NP_001305963.1:p.Ser1445ArgfsTer?