Canonical Allele Identifier: CA1139659418

Gene: DSP

Linked Data

• ClinVar Variation Id: 941359
• ClinVar RCV Id: RCV001211129
• dbSNP Id: rs1759501217

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583117del , CM000668.2:g.7583117del	GRCh38
NC_000006.11:g.7583350del , CM000668.1:g.7583350del	GRCh37
NC_000006.10:g.7528349del	NCBI36
NG_008803.1:g.46481del , LRG_423:g.46481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4526del	ENSP00000518230.1:p.Glu1509GlyfsTer20
ENST00000379802.8:c.5855del MANE Select	ENSP00000369129.3:p.Glu1952GlyfsTer20
ENST00000379802.7:c.5855del	ENSP00000369129.3:p.Glu1952GlyfsTer20
ENST00000418664.2:c.4058del	ENSP00000396591.2:p.Glu1353GlyfsTer20
NM_001008844.1:c.4058del	NP_001008844.1:p.Glu1353GlyfsTer20
NM_004415.2:c.5855del , LRG_423t1:c.5855del	NP_004406.2:p.Glu1952GlyfsTer20
XM_011514323.1:c.4526del	XP_011512625.1:p.Glu1509GlyfsTer20
NM_001008844.2:c.4058del	NP_001008844.1:p.Glu1353GlyfsTer20
NM_001319034.1:c.4526del	NP_001305963.1:p.Glu1509GlyfsTer20
NM_004415.3:c.5855del	NP_004406.2:p.Glu1952GlyfsTer20
NM_004415.4:c.5855del MANE Select	NP_004406.2:p.Glu1952GlyfsTer20
NM_001008844.3:c.4058del	NP_001008844.1:p.Glu1353GlyfsTer20
NM_001319034.2:c.4526del	NP_001305963.1:p.Glu1509GlyfsTer20