Canonical Allele Identifier: CA2586964495

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101199_197101200dup , CM000663.2:g.197101199_197101200dup	GRCh38
NC_000001.10:g.197070329_197070330dup , CM000663.1:g.197070329_197070330dup	GRCh37
NC_000001.9:g.195336952_195336953dup	NCBI36
NG_015867.1:g.50497_50498dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-5034_2108-5033dup
ENST00000367409.9:c.8053_8054dup MANE Select	ENSP00000356379.4:p.Gln2686PhefsTer10
ENST00000680265.1:c.8053_8054dup	ENSP00000505384.1:p.Gln2686PhefsTer10
ENST00000680710.1:c.8053_8054dup	ENSP00000506676.1:p.Gln2686PhefsTer10
ENST00000294732.11:c.4066-5034_4066-5033dup	ENSP00000294732.7:n.4066-5034_4066-5033dup
ENST00000367408.5:c.1816-5034_1816-5033dup	ENSP00000356378.1:n.1816-5034_1816-5033dup
ENST00000367409.8:c.8053_8054dup	ENSP00000356379.4:p.Gln2686PhefsTer10
ENST00000612785.1:c.2011_2012dup	ENSP00000479244.1:p.Gln672PhefsTer10
NM_001206846.1:c.4066-5034_4066-5033dup	NP_001193775.1:n.4066-5034_4066-5033dup
NM_018136.4:c.8053_8054dup	NP_060606.3:p.Gln2686PhefsTer10
NM_018136.5:c.8053_8054dup MANE Select	NP_060606.3:p.Gln2686PhefsTer10
NM_001206846.2:c.4066-5034_4066-5033dup	NP_001193775.1:n.4066-5034_4066-5033dup