Canonical Allele Identifier: CA2586964480
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197100652delinsAT , CM000663.2:g.197100652delinsAT GRCh38
NC_000001.10:g.197069782delinsAT , CM000663.1:g.197069782delinsAT GRCh37
NC_000001.9:g.195336405delinsAT NCBI36
NG_015867.1:g.51043delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-4488delinsAT
ENST00000367409.9:c.8599delinsAT MANE Select ENSP00000356379.4:p.Gln2867IlefsTer5
ENST00000680265.1:c.8599delinsAT ENSP00000505384.1:p.Gln2867IlefsTer5
ENST00000680710.1:c.8599delinsAT ENSP00000506676.1:p.Gln2867IlefsTer5
ENST00000294732.11:c.4066-4488delinsAT ENSP00000294732.7:n.4066-4488delinsAT
ENST00000367408.5:c.1816-4488delinsAT ENSP00000356378.1:n.1816-4488delinsAT
ENST00000367409.8:c.8599delinsAT ENSP00000356379.4:p.Gln2867IlefsTer5
ENST00000612785.1:c.2557delinsAT ENSP00000479244.1:p.Gln853IlefsTer5
NM_001206846.1:c.4066-4488delinsAT NP_001193775.1:n.4066-4488delinsAT
NM_018136.4:c.8599delinsAT NP_060606.3:p.Gln2867IlefsTer5
NM_018136.5:c.8599delinsAT MANE Select NP_060606.3:p.Gln2867IlefsTer5
NM_001206846.2:c.4066-4488delinsAT NP_001193775.1:n.4066-4488delinsAT