Canonical Allele Identifier: CA1217930340

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102555_197102559delinsTTGTA , CM000663.2:g.197102555_197102559delinsTTGTA	GRCh38
NC_000001.10:g.197071685_197071689delinsTTGTA , CM000663.1:g.197071685_197071689delinsTTGTA	GRCh37
NC_000001.9:g.195338308_195338312delinsTTGTA	NCBI36
NG_015867.1:g.49136_49140delinsTACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6395_2108-6391delinsTACAA
ENST00000367409.9:c.6692_6696delinsTACAA MANE Select	ENSP00000356379.4:p.Ile2231=
ENST00000680265.1:c.6692_6696delinsTACAA	ENSP00000505384.1:p.Ile2231=
ENST00000680710.1:c.6692_6696delinsTACAA	ENSP00000506676.1:p.Ile2231=
ENST00000294732.11:c.4066-6395_4066-6391delinsTACAA	ENSP00000294732.7:n.4066-6395_4066-6391delinsTACAA
ENST00000367408.5:c.1816-6395_1816-6391delinsTACAA	ENSP00000356378.1:n.1816-6395_1816-6391delinsTACAA
ENST00000367409.8:c.6692_6696delinsTACAA	ENSP00000356379.4:p.Ile2231=
ENST00000612785.1:c.650_654delinsTACAA	ENSP00000479244.1:p.Ile217=
NM_001206846.1:c.4066-6395_4066-6391delinsTACAA	NP_001193775.1:n.4066-6395_4066-6391delinsTACAA
NM_018136.4:c.6692_6696delinsTACAA	NP_060606.3:p.Ile2231=
NM_018136.5:c.6692_6696delinsTACAA MANE Select	NP_060606.3:p.Ile2231=
NM_001206846.2:c.4066-6395_4066-6391delinsTACAA	NP_001193775.1:n.4066-6395_4066-6391delinsTACAA