Canonical Allele Identifier: CA1217930928
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197104088_197104089delinsCT , CM000663.2:g.197104088_197104089delinsCT GRCh38
NC_000001.10:g.197073218_197073219delinsCT , CM000663.1:g.197073218_197073219delinsCT GRCh37
NC_000001.9:g.195339841_195339842delinsCT NCBI36
NG_015867.1:g.47606_47607delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-7925_2108-7924delinsAG
ENST00000367409.9:c.5162_5163delinsAG MANE Select ENSP00000356379.4:p.Lys1721=
ENST00000680265.1:c.5162_5163delinsAG ENSP00000505384.1:p.Lys1721=
ENST00000680710.1:c.5162_5163delinsAG ENSP00000506676.1:p.Lys1721=
ENST00000294732.11:c.4066-7925_4066-7924delinsAG ENSP00000294732.7:n.4066-7925_4066-7924delinsAG
ENST00000367408.5:c.1816-7925_1816-7924delinsAG ENSP00000356378.1:n.1816-7925_1816-7924delinsAG
ENST00000367409.8:c.5162_5163delinsAG ENSP00000356379.4:p.Lys1721=
ENST00000612785.1:c.562-1442_562-1441delinsAG ENSP00000479244.1:n.562-1442_562-1441delinsAG
NM_001206846.1:c.4066-7925_4066-7924delinsAG NP_001193775.1:n.4066-7925_4066-7924delinsAG
NM_018136.4:c.5162_5163delinsAG NP_060606.3:p.Lys1721=
NM_018136.5:c.5162_5163delinsAG MANE Select NP_060606.3:p.Lys1721=
NM_001206846.2:c.4066-7925_4066-7924delinsAG NP_001193775.1:n.4066-7925_4066-7924delinsAG