Canonical Allele Identifier: CA2649661758

Gene: ASPM

Linked Data

• gnomAD v4: 1-197104115-G-GTAACA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104117_197104121dup , CM000663.2:g.197104117_197104121dup	GRCh38
NC_000001.10:g.197073247_197073251dup , CM000663.1:g.197073247_197073251dup	GRCh37
NC_000001.9:g.195339870_195339874dup	NCBI36
NG_015867.1:g.47575_47579dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7956_2108-7952dup
ENST00000367409.9:c.5131_5135dup MANE Select	ENSP00000356379.4:p.Arg1713ValfsTer7
ENST00000680265.1:c.5131_5135dup	ENSP00000505384.1:p.Arg1713ValfsTer7
ENST00000680710.1:c.5131_5135dup	ENSP00000506676.1:p.Arg1713ValfsTer7
ENST00000294732.11:c.4066-7956_4066-7952dup	ENSP00000294732.7:n.4066-7956_4066-7952dup
ENST00000367408.5:c.1816-7956_1816-7952dup	ENSP00000356378.1:n.1816-7956_1816-7952dup
ENST00000367409.8:c.5131_5135dup	ENSP00000356379.4:p.Arg1713ValfsTer7
ENST00000612785.1:c.562-1473_562-1469dup	ENSP00000479244.1:n.562-1473_562-1469dup
NM_001206846.1:c.4066-7956_4066-7952dup	NP_001193775.1:n.4066-7956_4066-7952dup
NM_018136.4:c.5131_5135dup	NP_060606.3:p.Arg1713ValfsTer7
NM_018136.5:c.5131_5135dup MANE Select	NP_060606.3:p.Arg1713ValfsTer7
NM_001206846.2:c.4066-7956_4066-7952dup	NP_001193775.1:n.4066-7956_4066-7952dup