Canonical Allele Identifier: CA2649661737

Gene: ASPM

Linked Data

• gnomAD v4: 1-197101463-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101464dup , CM000663.2:g.197101464dup	GRCh38
NC_000001.10:g.197070594dup , CM000663.1:g.197070594dup	GRCh37
NC_000001.9:g.195337217dup	NCBI36
NG_015867.1:g.50231dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-5300dup
ENST00000367409.9:c.7787dup MANE Select	ENSP00000356379.4:p.Phe2597IlefsTer5
ENST00000680265.1:c.7787dup	ENSP00000505384.1:p.Phe2597IlefsTer5
ENST00000680710.1:c.7787dup	ENSP00000506676.1:p.Phe2597IlefsTer5
ENST00000294732.11:c.4066-5300dup	ENSP00000294732.7:n.4066-5300dup
ENST00000367408.5:c.1816-5300dup	ENSP00000356378.1:n.1816-5300dup
ENST00000367409.8:c.7787dup	ENSP00000356379.4:p.Phe2597IlefsTer5
ENST00000612785.1:c.1745dup	ENSP00000479244.1:p.Phe583IlefsTer5
NM_001206846.1:c.4066-5300dup	NP_001193775.1:n.4066-5300dup
NM_018136.4:c.7787dup	NP_060606.3:p.Phe2597IlefsTer5
NM_018136.5:c.7787dup MANE Select	NP_060606.3:p.Phe2597IlefsTer5
NM_001206846.2:c.4066-5300dup	NP_001193775.1:n.4066-5300dup