Canonical Allele Identifier: CA2747239789

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101245_197101260del , CM000663.2:g.197101245_197101260del	GRCh38
NC_000001.10:g.197070375_197070390del , CM000663.1:g.197070375_197070390del	GRCh37
NC_000001.9:g.195336998_195337013del	NCBI36
NG_015867.1:g.50436_50451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-5095_2108-5080del
ENST00000367409.9:c.7992_8007del MANE Select	ENSP00000356379.4:p.Arg2665PhefsTer25
ENST00000680265.1:c.7992_8007del	ENSP00000505384.1:p.Arg2665PhefsTer25
ENST00000680710.1:c.7992_8007del	ENSP00000506676.1:p.Arg2665PhefsTer25
ENST00000294732.11:c.4066-5095_4066-5080del	ENSP00000294732.7:n.4066-5095_4066-5080del
ENST00000367408.5:c.1816-5095_1816-5080del	ENSP00000356378.1:n.1816-5095_1816-5080del
ENST00000367409.8:c.7992_8007del	ENSP00000356379.4:p.Arg2665PhefsTer25
ENST00000612785.1:c.1950_1965del	ENSP00000479244.1:p.Arg651PhefsTer25
NM_001206846.1:c.4066-5095_4066-5080del	NP_001193775.1:n.4066-5095_4066-5080del
NM_018136.4:c.7992_8007del	NP_060606.3:p.Arg2665PhefsTer25
NM_018136.5:c.7992_8007del MANE Select	NP_060606.3:p.Arg2665PhefsTer25
NM_001206846.2:c.4066-5095_4066-5080del	NP_001193775.1:n.4066-5095_4066-5080del