Canonical Allele Identifier: CA1217923348
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197088115_197088116delinsAT , CM000663.2:g.197088115_197088116delinsAT GRCh38
NC_000001.10:g.197057245_197057246delinsAT , CM000663.1:g.197057245_197057246delinsAT GRCh37
NC_000001.9:g.195323868_195323869delinsAT NCBI36
NG_015867.1:g.63579_63580delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3448+140_3448+141delinsAT
ENST00000367409.9:c.10161+140_10161+141delinsAT MANE Select ENSP00000356379.4:n.10161+140_10161+141delinsAT
ENST00000680265.1:c.10383+140_10383+141delinsAT ENSP00000505384.1:n.10383+140_10383+141delinsAT
ENST00000680710.1:c.10137+140_10137+141delinsAT ENSP00000506676.1:n.10137+140_10137+141delinsAT
ENST00000294732.11:c.5406+140_5406+141delinsAT ENSP00000294732.7:n.5406+140_5406+141delinsAT
ENST00000367408.5:c.3156+140_3156+141delinsAT ENSP00000356378.1:n.3156+140_3156+141delinsAT
ENST00000367409.8:c.10161+140_10161+141delinsAT ENSP00000356379.4:n.10161+140_10161+141delinsAT
NM_001206846.1:c.5406+140_5406+141delinsAT NP_001193775.1:n.5406+140_5406+141delinsAT
NM_018136.4:c.10161+140_10161+141delinsAT NP_060606.3:n.10161+140_10161+141delinsAT
NM_018136.5:c.10161+140_10161+141delinsAT MANE Select NP_060606.3:n.10161+140_10161+141delinsAT
NM_001206846.2:c.5406+140_5406+141delinsAT NP_001193775.1:n.5406+140_5406+141delinsAT