Canonical Allele Identifier: CA2573332955

Gene: DSP

Linked Data

• ClinVar Variation Id: 1693214
• ClinVar RCV Id: RCV002260474
• dbSNP Id: rs2113669181

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7565374_7565375del , CM000668.2:g.7565374_7565375del	GRCh38
NC_000006.11:g.7565607_7565608del , CM000668.1:g.7565607_7565608del	GRCh37
NC_000006.10:g.7510606_7510607del	NCBI36
NG_008803.1:g.28738_28739del , LRG_423:g.28738_28739del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.793_794del	ENSP00000518230.1:p.Arg265AspfsTer23
ENST00000682228.1:n.117_118del
ENST00000379802.8:c.793_794del MANE Select	ENSP00000369129.3:p.Arg265AspfsTer23
ENST00000379802.7:c.793_794del	ENSP00000369129.3:p.Arg265AspfsTer23
ENST00000418664.2:c.793_794del	ENSP00000396591.2:p.Arg265AspfsTer23
ENST00000506617.1:n.311_312del
NM_001008844.1:c.793_794del	NP_001008844.1:p.Arg265AspfsTer23
NM_004415.2:c.793_794del , LRG_423t1:c.793_794del	NP_004406.2:p.Arg265AspfsTer23
XM_011514323.1:c.793_794del	XP_011512625.1:p.Arg265AspfsTer23
NM_001008844.2:c.793_794del	NP_001008844.1:p.Arg265AspfsTer23
NM_001319034.1:c.793_794del	NP_001305963.1:p.Arg265AspfsTer23
NM_004415.3:c.793_794del	NP_004406.2:p.Arg265AspfsTer23
NM_004415.4:c.793_794del MANE Select	NP_004406.2:p.Arg265AspfsTer23
NM_001008844.3:c.793_794del	NP_001008844.1:p.Arg265AspfsTer23
NM_001319034.2:c.793_794del	NP_001305963.1:p.Arg265AspfsTer23