Canonical Allele Identifier: CA2580075528

Gene: DSP

Linked Data

• ClinVar Variation Id: 2022404
• ClinVar RCV Id: RCV002852460

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583261_7583273del , CM000668.2:g.7583261_7583273del	GRCh38
NC_000006.11:g.7583494_7583506del , CM000668.1:g.7583494_7583506del	GRCh37
NC_000006.10:g.7528493_7528505del	NCBI36
NG_008803.1:g.46625_46637del , LRG_423:g.46625_46637del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4670_4682del	ENSP00000518230.1:p.Ser1557LeufsTer29
ENST00000379802.8:c.5999_6011del MANE Select	ENSP00000369129.3:p.Ser2000LeufsTer29
ENST00000379802.7:c.5999_6011del	ENSP00000369129.3:p.Ser2000LeufsTer29
ENST00000418664.2:c.4202_4214del	ENSP00000396591.2:p.Ser1401LeufsTer29
NM_001008844.1:c.4202_4214del	NP_001008844.1:p.Ser1401LeufsTer29
NM_004415.2:c.5999_6011del , LRG_423t1:c.5999_6011del	NP_004406.2:p.Ser2000LeufsTer29
XM_011514323.1:c.4670_4682del	XP_011512625.1:p.Ser1557LeufsTer29
NM_001008844.2:c.4202_4214del	NP_001008844.1:p.Ser1401LeufsTer29
NM_001319034.1:c.4670_4682del	NP_001305963.1:p.Ser1557LeufsTer29
NM_004415.3:c.5999_6011del	NP_004406.2:p.Ser2000LeufsTer29
NM_004415.4:c.5999_6011del MANE Select	NP_004406.2:p.Ser2000LeufsTer29
NM_001008844.3:c.4202_4214del	NP_001008844.1:p.Ser1401LeufsTer29
NM_001319034.2:c.4670_4682del	NP_001305963.1:p.Ser1557LeufsTer29