Canonical Allele Identifier: CA729756177

Gene: ASPM

Linked Data

• dbSNP Id: rs1465448637
• gnomAD v3: 1-197102827-CTT-C
• gnomAD v4: 1-197102827-CTT-C
• MyVariant Identifiers: chr1:g.197071958_197071959del (hg19) ; chr1:g.197102828_197102829del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102830_197102831del , CM000663.2:g.197102830_197102831del	GRCh38
NC_000001.10:g.197071960_197071961del , CM000663.1:g.197071960_197071961del	GRCh37
NC_000001.9:g.195338583_195338584del	NCBI36
NG_015867.1:g.48866_48867del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6665_2108-6664del
ENST00000367409.9:c.6422_6423del MANE Select	ENSP00000356379.4:p.Lys2141SerfsTer10
ENST00000680265.1:c.6422_6423del	ENSP00000505384.1:p.Lys2141SerfsTer10
ENST00000680710.1:c.6422_6423del	ENSP00000506676.1:p.Lys2141SerfsTer10
ENST00000294732.11:c.4066-6665_4066-6664del	ENSP00000294732.7:n.4066-6665_4066-6664del
ENST00000367408.5:c.1816-6665_1816-6664del	ENSP00000356378.1:n.1816-6665_1816-6664del
ENST00000367409.8:c.6422_6423del	ENSP00000356379.4:p.Lys2141SerfsTer10
ENST00000612785.1:c.562-182_562-181del	ENSP00000479244.1:n.562-182_562-181del
NM_001206846.1:c.4066-6665_4066-6664del	NP_001193775.1:n.4066-6665_4066-6664del
NM_018136.4:c.6422_6423del	NP_060606.3:p.Lys2141SerfsTer10
NM_018136.5:c.6422_6423del MANE Select	NP_060606.3:p.Lys2141SerfsTer10
NM_001206846.2:c.4066-6665_4066-6664del	NP_001193775.1:n.4066-6665_4066-6664del