Canonical Allele Identifier: CA645522999

Gene: ASPM

Linked Data

• gnomAD v4: 1-197103635-C-CA
• COSMIC: COSM1337561

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103641dup , CM000663.2:g.197103641dup	GRCh38
NC_000001.10:g.197072771dup , CM000663.1:g.197072771dup	GRCh37
NC_000001.9:g.195339394dup	NCBI36
NG_015867.1:g.48059dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7472dup
ENST00000367409.9:c.5615dup MANE Select	ENSP00000356379.4:p.Leu1872PhefsTer24
ENST00000680265.1:c.5615dup	ENSP00000505384.1:p.Leu1872PhefsTer24
ENST00000680710.1:c.5615dup	ENSP00000506676.1:p.Leu1872PhefsTer24
ENST00000294732.11:c.4066-7472dup	ENSP00000294732.7:n.4066-7472dup
ENST00000367408.5:c.1816-7472dup	ENSP00000356378.1:n.1816-7472dup
ENST00000367409.8:c.5615dup	ENSP00000356379.4:p.Leu1872PhefsTer24
ENST00000612785.1:c.562-989dup	ENSP00000479244.1:n.562-989dup
NM_001206846.1:c.4066-7472dup	NP_001193775.1:n.4066-7472dup
NM_018136.4:c.5615dup	NP_060606.3:p.Leu1872PhefsTer24
NM_018136.5:c.5615dup MANE Select	NP_060606.3:p.Leu1872PhefsTer24
NM_001206846.2:c.4066-7472dup	NP_001193775.1:n.4066-7472dup