Canonical Allele Identifier: CA2649661682

Gene: ASPM

Linked Data

• gnomAD v4: 1-197100721-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197100723dup , CM000663.2:g.197100723dup	GRCh38
NC_000001.10:g.197069853dup , CM000663.1:g.197069853dup	GRCh37
NC_000001.9:g.195336476dup	NCBI36
NG_015867.1:g.50973dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4558dup
ENST00000367409.9:c.8529dup MANE Select	ENSP00000356379.4:p.Gln2844SerfsTer28
ENST00000680265.1:c.8529dup	ENSP00000505384.1:p.Gln2844SerfsTer28
ENST00000680710.1:c.8529dup	ENSP00000506676.1:p.Gln2844SerfsTer28
ENST00000294732.11:c.4066-4558dup	ENSP00000294732.7:n.4066-4558dup
ENST00000367408.5:c.1816-4558dup	ENSP00000356378.1:n.1816-4558dup
ENST00000367409.8:c.8529dup	ENSP00000356379.4:p.Gln2844SerfsTer28
ENST00000612785.1:c.2487dup	ENSP00000479244.1:p.Gln830SerfsTer28
NM_001206846.1:c.4066-4558dup	NP_001193775.1:n.4066-4558dup
NM_018136.4:c.8529dup	NP_060606.3:p.Gln2844SerfsTer28
NM_018136.5:c.8529dup MANE Select	NP_060606.3:p.Gln2844SerfsTer28
NM_001206846.2:c.4066-4558dup	NP_001193775.1:n.4066-4558dup