Canonical Allele Identifier: CA1217930343

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102561_197102565delinsGTTTC , CM000663.2:g.197102561_197102565delinsGTTTC	GRCh38
NC_000001.10:g.197071691_197071695delinsGTTTC , CM000663.1:g.197071691_197071695delinsGTTTC	GRCh37
NC_000001.9:g.195338314_195338318delinsGTTTC	NCBI36
NG_015867.1:g.49130_49134delinsGAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6401_2108-6397delinsGAAAC
ENST00000367409.9:c.6686_6690delinsGAAAC MANE Select	ENSP00000356379.4:p.Arg2229=
ENST00000680265.1:c.6686_6690delinsGAAAC	ENSP00000505384.1:p.Arg2229=
ENST00000680710.1:c.6686_6690delinsGAAAC	ENSP00000506676.1:p.Arg2229=
ENST00000294732.11:c.4066-6401_4066-6397delinsGAAAC	ENSP00000294732.7:n.4066-6401_4066-6397delinsGAAAC
ENST00000367408.5:c.1816-6401_1816-6397delinsGAAAC	ENSP00000356378.1:n.1816-6401_1816-6397delinsGAAAC
ENST00000367409.8:c.6686_6690delinsGAAAC	ENSP00000356379.4:p.Arg2229=
ENST00000612785.1:c.644_648delinsGAAAC	ENSP00000479244.1:p.Arg215=
NM_001206846.1:c.4066-6401_4066-6397delinsGAAAC	NP_001193775.1:n.4066-6401_4066-6397delinsGAAAC
NM_018136.4:c.6686_6690delinsGAAAC	NP_060606.3:p.Arg2229=
NM_018136.5:c.6686_6690delinsGAAAC MANE Select	NP_060606.3:p.Arg2229=
NM_001206846.2:c.4066-6401_4066-6397delinsGAAAC	NP_001193775.1:n.4066-6401_4066-6397delinsGAAAC