Canonical Allele Identifier: CA1217923442
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197088228_197088232delinsTAAAG , CM000663.2:g.197088228_197088232delinsTAAAG GRCh38
NC_000001.10:g.197057358_197057362delinsTAAAG , CM000663.1:g.197057358_197057362delinsTAAAG GRCh37
NC_000001.9:g.195323981_195323985delinsTAAAG NCBI36
NG_015867.1:g.63463_63467delinsCTTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3448+24_3448+28delinsCTTTA
ENST00000367409.9:c.10161+24_10161+28delinsCTTTA MANE Select ENSP00000356379.4:n.10161+24_10161+28delinsCTTTA
ENST00000680265.1:c.10383+24_10383+28delinsCTTTA ENSP00000505384.1:n.10383+24_10383+28delinsCTTTA
ENST00000680710.1:c.10137+24_10137+28delinsCTTTA ENSP00000506676.1:n.10137+24_10137+28delinsCTTTA
ENST00000294732.11:c.5406+24_5406+28delinsCTTTA ENSP00000294732.7:n.5406+24_5406+28delinsCTTTA
ENST00000367408.5:c.3156+24_3156+28delinsCTTTA ENSP00000356378.1:n.3156+24_3156+28delinsCTTTA
ENST00000367409.8:c.10161+24_10161+28delinsCTTTA ENSP00000356379.4:n.10161+24_10161+28delinsCTTTA
ENST00000612785.1:c.4143_4147delinsCTTTA ENSP00000479244.1:p.Phe1381=
NM_001206846.1:c.5406+24_5406+28delinsCTTTA NP_001193775.1:n.5406+24_5406+28delinsCTTTA
NM_018136.4:c.10161+24_10161+28delinsCTTTA NP_060606.3:n.10161+24_10161+28delinsCTTTA
NM_018136.5:c.10161+24_10161+28delinsCTTTA MANE Select NP_060606.3:n.10161+24_10161+28delinsCTTTA
NM_001206846.2:c.5406+24_5406+28delinsCTTTA NP_001193775.1:n.5406+24_5406+28delinsCTTTA