Canonical Allele Identifier: CA1143355929

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102597_197102601delinsTGTTT , CM000663.2:g.197102597_197102601delinsTGTTT	GRCh38
NC_000001.10:g.197071727_197071731delinsTGTTT , CM000663.1:g.197071727_197071731delinsTGTTT	GRCh37
NC_000001.9:g.195338350_195338354delinsTGTTT	NCBI36
NG_015867.1:g.49094_49098delinsAAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6437_2108-6433delinsAAACA
ENST00000367409.9:c.6650_6654delinsAAACA MANE Select	ENSP00000356379.4:p.Lys2217=
ENST00000680265.1:c.6650_6654delinsAAACA	ENSP00000505384.1:p.Lys2217=
ENST00000680710.1:c.6650_6654delinsAAACA	ENSP00000506676.1:p.Lys2217=
ENST00000294732.11:c.4066-6437_4066-6433delinsAAACA	ENSP00000294732.7:n.4066-6437_4066-6433delinsAAACA
ENST00000367408.5:c.1816-6437_1816-6433delinsAAACA	ENSP00000356378.1:n.1816-6437_1816-6433delinsAAACA
ENST00000367409.8:c.6650_6654delinsAAACA	ENSP00000356379.4:p.Lys2217=
ENST00000612785.1:c.608_612delinsAAACA	ENSP00000479244.1:p.Lys203=
NM_001206846.1:c.4066-6437_4066-6433delinsAAACA	NP_001193775.1:n.4066-6437_4066-6433delinsAAACA
NM_018136.4:c.6650_6654delinsAAACA	NP_060606.3:p.Lys2217=
NM_018136.5:c.6650_6654delinsAAACA MANE Select	NP_060606.3:p.Lys2217=
NM_001206846.2:c.4066-6437_4066-6433delinsAAACA	NP_001193775.1:n.4066-6437_4066-6433delinsAAACA