Canonical Allele Identifier: CA528534992

Gene: ASPM

Linked Data

• dbSNP Id: rs1557946303
• gnomAD v2: 1-197071663-TCA-T
• gnomAD v4: 1-197102533-TCA-T
• MyVariant Identifiers: chr1:g.197071664_197071665del (hg19) ; chr1:g.197102534_197102535del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102534_197102535del , CM000663.2:g.197102534_197102535del	GRCh38
NC_000001.10:g.197071664_197071665del , CM000663.1:g.197071664_197071665del	GRCh37
NC_000001.9:g.195338287_195338288del	NCBI36
NG_015867.1:g.49160_49161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6371_2108-6370del
ENST00000367409.9:c.6716_6717del MANE Select	ENSP00000356379.4:p.Leu2239GlnfsTer12
ENST00000680265.1:c.6716_6717del	ENSP00000505384.1:p.Leu2239GlnfsTer12
ENST00000680710.1:c.6716_6717del	ENSP00000506676.1:p.Leu2239GlnfsTer12
ENST00000294732.11:c.4066-6371_4066-6370del	ENSP00000294732.7:n.4066-6371_4066-6370del
ENST00000367408.5:c.1816-6371_1816-6370del	ENSP00000356378.1:n.1816-6371_1816-6370del
ENST00000367409.8:c.6716_6717del	ENSP00000356379.4:p.Leu2239GlnfsTer12
ENST00000612785.1:c.674_675del	ENSP00000479244.1:p.Leu225GlnfsTer12
NM_001206846.1:c.4066-6371_4066-6370del	NP_001193775.1:n.4066-6371_4066-6370del
NM_018136.4:c.6716_6717del	NP_060606.3:p.Leu2239GlnfsTer12
NM_018136.5:c.6716_6717del MANE Select	NP_060606.3:p.Leu2239GlnfsTer12
NM_001206846.2:c.4066-6371_4066-6370del	NP_001193775.1:n.4066-6371_4066-6370del