Canonical Allele Identifier: CA2586964489

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101038dup , CM000663.2:g.197101038dup	GRCh38
NC_000001.10:g.197070168dup , CM000663.1:g.197070168dup	GRCh37
NC_000001.9:g.195336791dup	NCBI36
NG_015867.1:g.50658dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4873dup
ENST00000367409.9:c.8214dup MANE Select	ENSP00000356379.4:p.Gln2739SerfsTer12
ENST00000680265.1:c.8214dup	ENSP00000505384.1:p.Gln2739SerfsTer12
ENST00000680710.1:c.8214dup	ENSP00000506676.1:p.Gln2739SerfsTer12
ENST00000294732.11:c.4066-4873dup	ENSP00000294732.7:n.4066-4873dup
ENST00000367408.5:c.1816-4873dup	ENSP00000356378.1:n.1816-4873dup
ENST00000367409.8:c.8214dup	ENSP00000356379.4:p.Gln2739SerfsTer12
ENST00000612785.1:c.2172dup	ENSP00000479244.1:p.Gln725SerfsTer12
NM_001206846.1:c.4066-4873dup	NP_001193775.1:n.4066-4873dup
NM_018136.4:c.8214dup	NP_060606.3:p.Gln2739SerfsTer12
NM_018136.5:c.8214dup MANE Select	NP_060606.3:p.Gln2739SerfsTer12
NM_001206846.2:c.4066-4873dup	NP_001193775.1:n.4066-4873dup