Canonical Allele Identifier: CA1217923342
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197088109_197088110delinsGA , CM000663.2:g.197088109_197088110delinsGA GRCh38
NC_000001.10:g.197057239_197057240delinsGA , CM000663.1:g.197057239_197057240delinsGA GRCh37
NC_000001.9:g.195323862_195323863delinsGA NCBI36
NG_015867.1:g.63585_63586delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3448+146_3448+147delinsTC
ENST00000367409.9:c.10161+146_10161+147delinsTC MANE Select ENSP00000356379.4:n.10161+146_10161+147delinsTC
ENST00000680265.1:c.10383+146_10383+147delinsTC ENSP00000505384.1:n.10383+146_10383+147delinsTC
ENST00000680710.1:c.10137+146_10137+147delinsTC ENSP00000506676.1:n.10137+146_10137+147delinsTC
ENST00000294732.11:c.5406+146_5406+147delinsTC ENSP00000294732.7:n.5406+146_5406+147delinsTC
ENST00000367408.5:c.3156+146_3156+147delinsTC ENSP00000356378.1:n.3156+146_3156+147delinsTC
ENST00000367409.8:c.10161+146_10161+147delinsTC ENSP00000356379.4:n.10161+146_10161+147delinsTC
NM_001206846.1:c.5406+146_5406+147delinsTC NP_001193775.1:n.5406+146_5406+147delinsTC
NM_018136.4:c.10161+146_10161+147delinsTC NP_060606.3:n.10161+146_10161+147delinsTC
NM_018136.5:c.10161+146_10161+147delinsTC MANE Select NP_060606.3:n.10161+146_10161+147delinsTC
NM_001206846.2:c.5406+146_5406+147delinsTC NP_001193775.1:n.5406+146_5406+147delinsTC