Canonical Allele Identifier: CA2573140820

Gene: DSP

Linked Data

• ClinVar Variation Id: 1513344
• ClinVar RCV Id: RCV002018374
• dbSNP Id: rs2113701695

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584391_7584414del , CM000668.2:g.7584391_7584414del	GRCh38
NC_000006.11:g.7584624_7584647del , CM000668.1:g.7584624_7584647del	GRCh37
NC_000006.10:g.7529623_7529646del	NCBI36
NG_008803.1:g.47755_47778del , LRG_423:g.47755_47778del

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.5800_5823del	ENSP00000518230.1:p.Ile1934_His1941del
ENST00000379802.8:c.7129_7152del MANE Select	ENSP00000369129.3:p.Ile2377_His2384del
ENST00000379802.7:c.7129_7152del	ENSP00000369129.3:p.Ile2377_His2384del
ENST00000418664.2:c.5332_5355del	ENSP00000396591.2:p.Ile1778_His1785del
NM_001008844.1:c.5332_5355del	NP_001008844.1:p.Ile1778_His1785del
NM_004415.2:c.7129_7152del , LRG_423t1:c.7129_7152del	NP_004406.2:p.Ile2377_His2384del
XM_011514323.1:c.5800_5823del	XP_011512625.1:p.Ile1934_His1941del
NM_001008844.2:c.5332_5355del	NP_001008844.1:p.Ile1778_His1785del
NM_001319034.1:c.5800_5823del	NP_001305963.1:p.Ile1934_His1941del
NM_004415.3:c.7129_7152del	NP_004406.2:p.Ile2377_His2384del
NM_004415.4:c.7129_7152del MANE Select	NP_004406.2:p.Ile2377_His2384del
NM_001008844.3:c.5332_5355del	NP_001008844.1:p.Ile1778_His1785del
NM_001319034.2:c.5800_5823del	NP_001305963.1:p.Ile1934_His1941del