Canonical Allele Identifier: CA2582341643

Gene: DSP

Linked Data

• ClinVar Variation Id: 2583033
• ClinVar RCV Id: RCV003334276

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585491del , CM000668.2:g.7585491del	GRCh38
NC_000006.11:g.7585724del , CM000668.1:g.7585724del	GRCh37
NC_000006.10:g.7530723del	NCBI36
NG_008803.1:g.48855del , LRG_423:g.48855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6900del	ENSP00000518230.1:p.Arg2301GlyfsTer2
ENST00000379802.8:c.8229del MANE Select	ENSP00000369129.3:p.Arg2744GlyfsTer2
ENST00000379802.7:c.8229del	ENSP00000369129.3:p.Arg2744GlyfsTer2
ENST00000418664.2:c.6432del	ENSP00000396591.2:p.Arg2145GlyfsTer2
NM_001008844.1:c.6432del	NP_001008844.1:p.Arg2145GlyfsTer2
NM_004415.2:c.8229del , LRG_423t1:c.8229del	NP_004406.2:p.Arg2744GlyfsTer2
XM_011514323.1:c.6900del	XP_011512625.1:p.Arg2301GlyfsTer2
NM_001008844.2:c.6432del	NP_001008844.1:p.Arg2145GlyfsTer2
NM_001319034.1:c.6900del	NP_001305963.1:p.Arg2301GlyfsTer2
NM_004415.3:c.8229del	NP_004406.2:p.Arg2744GlyfsTer2
NM_004415.4:c.8229del MANE Select	NP_004406.2:p.Arg2744GlyfsTer2
NM_001008844.3:c.6432del	NP_001008844.1:p.Arg2145GlyfsTer2
NM_001319034.2:c.6900del	NP_001305963.1:p.Arg2301GlyfsTer2