Canonical Allele Identifier: CA1217930744
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197103602_197103603delinsAG , CM000663.2:g.197103602_197103603delinsAG GRCh38
NC_000001.10:g.197072732_197072733delinsAG , CM000663.1:g.197072732_197072733delinsAG GRCh37
NC_000001.9:g.195339355_195339356delinsAG NCBI36
NG_015867.1:g.48092_48093delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-7439_2108-7438delinsCT
ENST00000367409.9:c.5648_5649delinsCT MANE Select ENSP00000356379.4:p.Ser1883=
ENST00000680265.1:c.5648_5649delinsCT ENSP00000505384.1:p.Ser1883=
ENST00000680710.1:c.5648_5649delinsCT ENSP00000506676.1:p.Ser1883=
ENST00000294732.11:c.4066-7439_4066-7438delinsCT ENSP00000294732.7:n.4066-7439_4066-7438delinsCT
ENST00000367408.5:c.1816-7439_1816-7438delinsCT ENSP00000356378.1:n.1816-7439_1816-7438delinsCT
ENST00000367409.8:c.5648_5649delinsCT ENSP00000356379.4:p.Ser1883=
ENST00000612785.1:c.562-956_562-955delinsCT ENSP00000479244.1:n.562-956_562-955delinsCT
NM_001206846.1:c.4066-7439_4066-7438delinsCT NP_001193775.1:n.4066-7439_4066-7438delinsCT
NM_018136.4:c.5648_5649delinsCT NP_060606.3:p.Ser1883=
NM_018136.5:c.5648_5649delinsCT MANE Select NP_060606.3:p.Ser1883=
NM_001206846.2:c.4066-7439_4066-7438delinsCT NP_001193775.1:n.4066-7439_4066-7438delinsCT