Canonical Allele Identifier: CA1217946536

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143345_197143347delinsAAC , CM000663.2:g.197143345_197143347delinsAAC	GRCh38
NC_000001.10:g.197112475_197112477delinsAAC , CM000663.1:g.197112475_197112477delinsAAC	GRCh37
NC_000001.9:g.195379098_195379100delinsAAC	NCBI36
NG_015867.1:g.8348_8350delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.905_907delinsGTT MANE Select	ENSP00000356379.4:p.Cys302=
ENST00000679766.1:n.1122_1124delinsGTT
ENST00000680265.1:c.905_907delinsGTT	ENSP00000505384.1:p.Cys302=
ENST00000680710.1:c.905_907delinsGTT	ENSP00000506676.1:p.Cys302=
ENST00000681879.1:c.905_907delinsGTT	ENSP00000505363.1:p.Cys302=
ENST00000294732.11:c.905_907delinsGTT	ENSP00000294732.7:p.Cys302=
ENST00000367409.8:c.905_907delinsGTT	ENSP00000356379.4:p.Cys302=
ENST00000612785.1:c.561+344_561+346delinsGTT	ENSP00000479244.1:n.561+344_561+346delinsGTT
NM_001206846.1:c.905_907delinsGTT	NP_001193775.1:p.Cys302=
NM_018136.4:c.905_907delinsGTT	NP_060606.3:p.Cys302=
NM_018136.5:c.905_907delinsGTT MANE Select	NP_060606.3:p.Cys302=
NM_001206846.2:c.905_907delinsGTT	NP_001193775.1:p.Cys302=