Canonical Allele Identifier: CA891843110

Gene: DSP

Linked Data

• ClinVar Variation Id: 572780
• ClinVar RCV Id: RCV002325391
• dbSNP Id: rs1561696970

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579316_7579317delinsT , CM000668.2:g.7579316_7579317delinsT	GRCh38
NC_000006.11:g.7579549_7579550delinsT , CM000668.1:g.7579549_7579550delinsT	GRCh37
NC_000006.10:g.7524548_7524549delinsT	NCBI36
NG_008803.1:g.42680_42681delinsT , LRG_423:g.42680_42681delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3126_3127delinsT	ENSP00000518230.1:p.Arg1042SerfsTer?
ENST00000379802.8:c.3126_3127delinsT MANE Select	ENSP00000369129.3:p.Arg1042SerfsTer?
ENST00000379802.7:c.3126_3127delinsT	ENSP00000369129.3:p.Arg1042SerfsTer?
ENST00000418664.2:c.3126_3127delinsT	ENSP00000396591.2:p.Arg1042SerfsTer?
NM_001008844.1:c.3126_3127delinsT	NP_001008844.1:p.Arg1042SerfsTer?
NM_004415.2:c.3126_3127delinsT , LRG_423t1:c.3126_3127delinsT	NP_004406.2:p.Arg1042SerfsTer?
XM_011514323.1:c.3126_3127delinsT	XP_011512625.1:p.Arg1042SerfsTer?
NM_001008844.2:c.3126_3127delinsT	NP_001008844.1:p.Arg1042SerfsTer?
NM_001319034.1:c.3126_3127delinsT	NP_001305963.1:p.Arg1042SerfsTer?
NM_004415.3:c.3126_3127delinsT	NP_004406.2:p.Arg1042SerfsTer?
NM_004415.4:c.3126_3127delinsT MANE Select	NP_004406.2:p.Arg1042SerfsTer?
NM_001008844.3:c.3126_3127delinsT	NP_001008844.1:p.Arg1042SerfsTer?
NM_001319034.2:c.3126_3127delinsT	NP_001305963.1:p.Arg1042SerfsTer?