Canonical Allele Identifier: CA916081475

Gene: DSP

Linked Data

• ClinVar Variation Id: 834988
• ClinVar RCV Id: RCV001035783
• dbSNP Id: rs1758828907

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7565408_7565411del , CM000668.2:g.7565408_7565411del	GRCh38
NC_000006.11:g.7565641_7565644del , CM000668.1:g.7565641_7565644del	GRCh37
NC_000006.10:g.7510640_7510643del	NCBI36
NG_008803.1:g.28772_28775del , LRG_423:g.28772_28775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.827_830del	ENSP00000518230.1:p.Ile276ArgfsTer?
ENST00000682228.1:n.151_154del
ENST00000379802.8:c.827_830del MANE Select	ENSP00000369129.3:p.Ile276ArgfsTer?
ENST00000379802.7:c.827_830del	ENSP00000369129.3:p.Ile276ArgfsTer?
ENST00000418664.2:c.827_830del	ENSP00000396591.2:p.Ile276ArgfsTer?
ENST00000506617.1:n.345_348del
NM_001008844.1:c.827_830del	NP_001008844.1:p.Ile276ArgfsTer?
NM_004415.2:c.827_830del , LRG_423t1:c.827_830del	NP_004406.2:p.Ile276ArgfsTer?
XM_011514323.1:c.827_830del	XP_011512625.1:p.Ile276ArgfsTer?
NM_001008844.2:c.827_830del	NP_001008844.1:p.Ile276ArgfsTer?
NM_001319034.1:c.827_830del	NP_001305963.1:p.Ile276ArgfsTer?
NM_004415.3:c.827_830del	NP_004406.2:p.Ile276ArgfsTer?
NM_004415.4:c.827_830del MANE Select	NP_004406.2:p.Ile276ArgfsTer?
NM_001008844.3:c.827_830del	NP_001008844.1:p.Ile276ArgfsTer?
NM_001319034.2:c.827_830del	NP_001305963.1:p.Ile276ArgfsTer?