Canonical Allele Identifier: CA2649661755

Gene: ASPM

Linked Data

• gnomAD v4: 1-197101656-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101657dup , CM000663.2:g.197101657dup	GRCh38
NC_000001.10:g.197070787dup , CM000663.1:g.197070787dup	GRCh37
NC_000001.9:g.195337410dup	NCBI36
NG_015867.1:g.50038dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-5493dup
ENST00000367409.9:c.7594dup MANE Select	ENSP00000356379.4:p.His2532ProfsTer11
ENST00000680265.1:c.7594dup	ENSP00000505384.1:p.His2532ProfsTer11
ENST00000680710.1:c.7594dup	ENSP00000506676.1:p.His2532ProfsTer11
ENST00000294732.11:c.4066-5493dup	ENSP00000294732.7:n.4066-5493dup
ENST00000367408.5:c.1816-5493dup	ENSP00000356378.1:n.1816-5493dup
ENST00000367409.8:c.7594dup	ENSP00000356379.4:p.His2532ProfsTer11
ENST00000612785.1:c.1552dup	ENSP00000479244.1:p.His518ProfsTer11
NM_001206846.1:c.4066-5493dup	NP_001193775.1:n.4066-5493dup
NM_018136.4:c.7594dup	NP_060606.3:p.His2532ProfsTer11
NM_018136.5:c.7594dup MANE Select	NP_060606.3:p.His2532ProfsTer11
NM_001206846.2:c.4066-5493dup	NP_001193775.1:n.4066-5493dup