Canonical Allele Identifier: CA1148224866

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143448_197143451delinsTTTT , CM000663.2:g.197143448_197143451delinsTTTT	GRCh38
NC_000001.10:g.197112578_197112581delinsTTTT , CM000663.1:g.197112578_197112581delinsTTTT	GRCh37
NC_000001.9:g.195379201_195379204delinsTTTT	NCBI36
NG_015867.1:g.8244_8247delinsAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.801_804delinsAAAA MANE Select	ENSP00000356379.4:p.Ser267=
ENST00000679766.1:n.1018_1021delinsAAAA
ENST00000680265.1:c.801_804delinsAAAA	ENSP00000505384.1:p.Ser267=
ENST00000680710.1:c.801_804delinsAAAA	ENSP00000506676.1:p.Ser267=
ENST00000681879.1:c.801_804delinsAAAA	ENSP00000505363.1:p.Ser267=
ENST00000294732.11:c.801_804delinsAAAA	ENSP00000294732.7:p.Ser267=
ENST00000367409.8:c.801_804delinsAAAA	ENSP00000356379.4:p.Ser267=
ENST00000612785.1:c.561+240_561+243delinsAAAA	ENSP00000479244.1:n.561+240_561+243delinsAAAA
NM_001206846.1:c.801_804delinsAAAA	NP_001193775.1:p.Ser267=
NM_018136.4:c.801_804delinsAAAA	NP_060606.3:p.Ser267=
NM_018136.5:c.801_804delinsAAAA MANE Select	NP_060606.3:p.Ser267=
NM_001206846.2:c.801_804delinsAAAA	NP_001193775.1:p.Ser267=