Canonical Allele Identifier: CA645523003

Gene: ASPM

Linked Data

• ClinVar Variation Id: 995272
• ClinVar RCV Id: RCV001289244
• dbSNP Id: rs1461653803
• gnomAD v4: 1-197103841-CT-C
• COSMIC: COSM5754312

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103847del , CM000663.2:g.197103847del	GRCh38
NC_000001.10:g.197072977del , CM000663.1:g.197072977del	GRCh37
NC_000001.9:g.195339600del	NCBI36
NG_015867.1:g.47853del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7678del
ENST00000367409.9:c.5409del MANE Select	ENSP00000356379.4:p.Ala1804GlnfsTer17
ENST00000680265.1:c.5409del	ENSP00000505384.1:p.Ala1804GlnfsTer17
ENST00000680710.1:c.5409del	ENSP00000506676.1:p.Ala1804GlnfsTer17
ENST00000294732.11:c.4066-7678del	ENSP00000294732.7:n.4066-7678del
ENST00000367408.5:c.1816-7678del	ENSP00000356378.1:n.1816-7678del
ENST00000367409.8:c.5409del	ENSP00000356379.4:p.Ala1804GlnfsTer17
ENST00000612785.1:c.562-1195del	ENSP00000479244.1:n.562-1195del
NM_001206846.1:c.4066-7678del	NP_001193775.1:n.4066-7678del
NM_018136.4:c.5409del	NP_060606.3:p.Ala1804GlnfsTer17
NM_018136.5:c.5409del MANE Select	NP_060606.3:p.Ala1804GlnfsTer17
NM_001206846.2:c.4066-7678del	NP_001193775.1:n.4066-7678del