Canonical Allele Identifier: CA2574124294

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102895_197102896dup , CM000663.2:g.197102895_197102896dup	GRCh38
NC_000001.10:g.197072025_197072026dup , CM000663.1:g.197072025_197072026dup	GRCh37
NC_000001.9:g.195338648_195338649dup	NCBI36
NG_015867.1:g.48799_48800dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6732_2108-6731dup
ENST00000367409.9:c.6355_6356dup MANE Select	ENSP00000356379.4:p.Ala2120GlnfsTer16
ENST00000680265.1:c.6355_6356dup	ENSP00000505384.1:p.Ala2120GlnfsTer16
ENST00000680710.1:c.6355_6356dup	ENSP00000506676.1:p.Ala2120GlnfsTer16
ENST00000294732.11:c.4066-6732_4066-6731dup	ENSP00000294732.7:n.4066-6732_4066-6731dup
ENST00000367408.5:c.1816-6732_1816-6731dup	ENSP00000356378.1:n.1816-6732_1816-6731dup
ENST00000367409.8:c.6355_6356dup	ENSP00000356379.4:p.Ala2120GlnfsTer16
ENST00000612785.1:c.562-249_562-248dup	ENSP00000479244.1:n.562-249_562-248dup
NM_001206846.1:c.4066-6732_4066-6731dup	NP_001193775.1:n.4066-6732_4066-6731dup
NM_018136.4:c.6355_6356dup	NP_060606.3:p.Ala2120GlnfsTer16
NM_018136.5:c.6355_6356dup MANE Select	NP_060606.3:p.Ala2120GlnfsTer16
NM_001206846.2:c.4066-6732_4066-6731dup	NP_001193775.1:n.4066-6732_4066-6731dup