Canonical Allele Identifier: CA645522987

Gene: ASPM

Linked Data

• COSMIC: COSM4614687

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197100616dup , CM000663.2:g.197100616dup	GRCh38
NC_000001.10:g.197069746dup , CM000663.1:g.197069746dup	GRCh37
NC_000001.9:g.195336369dup	NCBI36
NG_015867.1:g.51083dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4448dup
ENST00000367409.9:c.8639dup MANE Select	ENSP00000356379.4:p.Leu2880PhefsTer4
ENST00000680265.1:c.8639dup	ENSP00000505384.1:p.Leu2880PhefsTer4
ENST00000680710.1:c.8639dup	ENSP00000506676.1:p.Leu2880PhefsTer4
ENST00000294732.11:c.4066-4448dup	ENSP00000294732.7:n.4066-4448dup
ENST00000367408.5:c.1816-4448dup	ENSP00000356378.1:n.1816-4448dup
ENST00000367409.8:c.8639dup	ENSP00000356379.4:p.Leu2880PhefsTer4
ENST00000612785.1:c.2597dup	ENSP00000479244.1:p.Leu866PhefsTer4
NM_001206846.1:c.4066-4448dup	NP_001193775.1:n.4066-4448dup
NM_018136.4:c.8639dup	NP_060606.3:p.Leu2880PhefsTer4
NM_018136.5:c.8639dup MANE Select	NP_060606.3:p.Leu2880PhefsTer4
NM_001206846.2:c.4066-4448dup	NP_001193775.1:n.4066-4448dup