Canonical Allele Identifier: CA2573140932

Gene: DSP

Linked Data

• ClinVar Variation Id: 1454040
• ClinVar RCV Id: RCV001939394
• dbSNP Id: rs2113672514

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7567408_7567409del , CM000668.2:g.7567408_7567409del	GRCh38
NC_000006.11:g.7567641_7567642del , CM000668.1:g.7567641_7567642del	GRCh37
NC_000006.10:g.7512640_7512641del	NCBI36
NG_008803.1:g.30772_30773del , LRG_423:g.30772_30773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.1099_1100del	ENSP00000518230.1:p.Cys367HisfsTer2
ENST00000682228.1:n.423_424del
ENST00000379802.8:c.1099_1100del MANE Select	ENSP00000369129.3:p.Cys367HisfsTer2
ENST00000379802.7:c.1099_1100del	ENSP00000369129.3:p.Cys367HisfsTer2
ENST00000418664.2:c.1099_1100del	ENSP00000396591.2:p.Cys367HisfsTer2
NM_001008844.1:c.1099_1100del	NP_001008844.1:p.Cys367HisfsTer2
NM_004415.2:c.1099_1100del , LRG_423t1:c.1099_1100del	NP_004406.2:p.Cys367HisfsTer2
XM_011514323.1:c.1099_1100del	XP_011512625.1:p.Cys367HisfsTer2
NM_001008844.2:c.1099_1100del	NP_001008844.1:p.Cys367HisfsTer2
NM_001319034.1:c.1099_1100del	NP_001305963.1:p.Cys367HisfsTer2
NM_004415.3:c.1099_1100del	NP_004406.2:p.Cys367HisfsTer2
NM_004415.4:c.1099_1100del MANE Select	NP_004406.2:p.Cys367HisfsTer2
NM_001008844.3:c.1099_1100del	NP_001008844.1:p.Cys367HisfsTer2
NM_001319034.2:c.1099_1100del	NP_001305963.1:p.Cys367HisfsTer2