Canonical Allele Identifier: CA528534993

Gene: ASPM

Linked Data

• dbSNP Id: rs1444204519
• gnomAD v2: 1-197071685-TTGTA-T
• gnomAD v4: 1-197102555-TTGTA-T
• MyVariant Identifiers: chr1:g.197071686_197071689del (hg19) ; chr1:g.197102556_197102559del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102559_197102562del , CM000663.2:g.197102559_197102562del	GRCh38
NC_000001.10:g.197071689_197071692del , CM000663.1:g.197071689_197071692del	GRCh37
NC_000001.9:g.195338312_195338315del	NCBI36
NG_015867.1:g.49136_49139del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6395_2108-6392del
ENST00000367409.9:c.6692_6695del MANE Select	ENSP00000356379.4:p.Ile2231AsnfsTer8
ENST00000680265.1:c.6692_6695del	ENSP00000505384.1:p.Ile2231AsnfsTer8
ENST00000680710.1:c.6692_6695del	ENSP00000506676.1:p.Ile2231AsnfsTer8
ENST00000294732.11:c.4066-6395_4066-6392del	ENSP00000294732.7:n.4066-6395_4066-6392del
ENST00000367408.5:c.1816-6395_1816-6392del	ENSP00000356378.1:n.1816-6395_1816-6392del
ENST00000367409.8:c.6692_6695del	ENSP00000356379.4:p.Ile2231AsnfsTer8
ENST00000612785.1:c.650_653del	ENSP00000479244.1:p.Ile217AsnfsTer8
NM_001206846.1:c.4066-6395_4066-6392del	NP_001193775.1:n.4066-6395_4066-6392del
NM_018136.4:c.6692_6695del	NP_060606.3:p.Ile2231AsnfsTer8
NM_018136.5:c.6692_6695del MANE Select	NP_060606.3:p.Ile2231AsnfsTer8
NM_001206846.2:c.4066-6395_4066-6392del	NP_001193775.1:n.4066-6395_4066-6392del