Canonical Allele Identifier: CA917669408

Gene: DSP

Linked Data

• ClinVar Variation Id: 2412593
• ClinVar RCV Id: RCV002789936 ; RCV003778650
• dbSNP Id: rs1285329067

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579393_7579394del , CM000668.2:g.7579393_7579394del	GRCh38
NC_000006.11:g.7579626_7579627del , CM000668.1:g.7579626_7579627del	GRCh37
NC_000006.10:g.7524625_7524626del	NCBI36
NG_008803.1:g.42757_42758del , LRG_423:g.42757_42758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3203_3204del	ENSP00000518230.1:p.Glu1068ValfsTer19
ENST00000379802.8:c.3203_3204del MANE Select	ENSP00000369129.3:p.Glu1068ValfsTer19
ENST00000379802.7:c.3203_3204del	ENSP00000369129.3:p.Glu1068ValfsTer19
ENST00000418664.2:c.3203_3204del	ENSP00000396591.2:p.Glu1068ValfsTer19
NM_001008844.1:c.3203_3204del	NP_001008844.1:p.Glu1068ValfsTer19
NM_004415.2:c.3203_3204del , LRG_423t1:c.3203_3204del	NP_004406.2:p.Glu1068ValfsTer19
XM_011514323.1:c.3203_3204del	XP_011512625.1:p.Glu1068ValfsTer19
NM_001008844.2:c.3203_3204del	NP_001008844.1:p.Glu1068ValfsTer19
NM_001319034.1:c.3203_3204del	NP_001305963.1:p.Glu1068ValfsTer19
NM_004415.3:c.3203_3204del	NP_004406.2:p.Glu1068ValfsTer19
NM_004415.4:c.3203_3204del MANE Select	NP_004406.2:p.Glu1068ValfsTer19
NM_001008844.3:c.3203_3204del	NP_001008844.1:p.Glu1068ValfsTer19
NM_001319034.2:c.3203_3204del	NP_001305963.1:p.Glu1068ValfsTer19