Canonical Allele Identifier: CA528535006

Gene: ASPM

Linked Data

• dbSNP Id: rs1364013037
• gnomAD v2: 1-197072732-AG-A
• gnomAD v4: 1-197103602-AG-A
• MyVariant Identifiers: chr1:g.197072733del (hg19) ; chr1:g.197103603del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103603del , CM000663.2:g.197103603del	GRCh38
NC_000001.10:g.197072733del , CM000663.1:g.197072733del	GRCh37
NC_000001.9:g.195339356del	NCBI36
NG_015867.1:g.48092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7439del
ENST00000367409.9:c.5648del MANE Select	ENSP00000356379.4:p.Ser1883LeufsTer20
ENST00000680265.1:c.5648del	ENSP00000505384.1:p.Ser1883LeufsTer20
ENST00000680710.1:c.5648del	ENSP00000506676.1:p.Ser1883LeufsTer20
ENST00000294732.11:c.4066-7439del	ENSP00000294732.7:n.4066-7439del
ENST00000367408.5:c.1816-7439del	ENSP00000356378.1:n.1816-7439del
ENST00000367409.8:c.5648del	ENSP00000356379.4:p.Ser1883LeufsTer20
ENST00000612785.1:c.562-956del	ENSP00000479244.1:n.562-956del
NM_001206846.1:c.4066-7439del	NP_001193775.1:n.4066-7439del
NM_018136.4:c.5648del	NP_060606.3:p.Ser1883LeufsTer20
NM_018136.5:c.5648del MANE Select	NP_060606.3:p.Ser1883LeufsTer20
NM_001206846.2:c.4066-7439del	NP_001193775.1:n.4066-7439del