Canonical Allele Identifier: CA1217930379

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102656_197102660delinsTTGAC , CM000663.2:g.197102656_197102660delinsTTGAC	GRCh38
NC_000001.10:g.197071786_197071790delinsTTGAC , CM000663.1:g.197071786_197071790delinsTTGAC	GRCh37
NC_000001.9:g.195338409_195338413delinsTTGAC	NCBI36
NG_015867.1:g.49035_49039delinsGTCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6496_2108-6492delinsGTCAA
ENST00000367409.9:c.6591_6595delinsGTCAA MANE Select	ENSP00000356379.4:p.Gln2197=
ENST00000680265.1:c.6591_6595delinsGTCAA	ENSP00000505384.1:p.Gln2197=
ENST00000680710.1:c.6591_6595delinsGTCAA	ENSP00000506676.1:p.Gln2197=
ENST00000294732.11:c.4066-6496_4066-6492delinsGTCAA	ENSP00000294732.7:n.4066-6496_4066-6492delinsGTCAA
ENST00000367408.5:c.1816-6496_1816-6492delinsGTCAA	ENSP00000356378.1:n.1816-6496_1816-6492delinsGTCAA
ENST00000367409.8:c.6591_6595delinsGTCAA	ENSP00000356379.4:p.Gln2197=
ENST00000612785.1:c.562-13_562-9delinsGTCAA	ENSP00000479244.1:n.562-13_562-9delinsGTCAA
NM_001206846.1:c.4066-6496_4066-6492delinsGTCAA	NP_001193775.1:n.4066-6496_4066-6492delinsGTCAA
NM_018136.4:c.6591_6595delinsGTCAA	NP_060606.3:p.Gln2197=
NM_018136.5:c.6591_6595delinsGTCAA MANE Select	NP_060606.3:p.Gln2197=
NM_001206846.2:c.4066-6496_4066-6492delinsGTCAA	NP_001193775.1:n.4066-6496_4066-6492delinsGTCAA