Canonical Allele Identifier: CA1217929913

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101393_197101397delinsGTTTT , CM000663.2:g.197101393_197101397delinsGTTTT	GRCh38
NC_000001.10:g.197070523_197070527delinsGTTTT , CM000663.1:g.197070523_197070527delinsGTTTT	GRCh37
NC_000001.9:g.195337146_195337150delinsGTTTT	NCBI36
NG_015867.1:g.50298_50302delinsAAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-5233_2108-5229delinsAAAAC
ENST00000367409.9:c.7854_7858delinsAAAAC MANE Select	ENSP00000356379.4:p.Lys2618=
ENST00000680265.1:c.7854_7858delinsAAAAC	ENSP00000505384.1:p.Lys2618=
ENST00000680710.1:c.7854_7858delinsAAAAC	ENSP00000506676.1:p.Lys2618=
ENST00000294732.11:c.4066-5233_4066-5229delinsAAAAC	ENSP00000294732.7:n.4066-5233_4066-5229delinsAAAAC
ENST00000367408.5:c.1816-5233_1816-5229delinsAAAAC	ENSP00000356378.1:n.1816-5233_1816-5229delinsAAAAC
ENST00000367409.8:c.7854_7858delinsAAAAC	ENSP00000356379.4:p.Lys2618=
ENST00000612785.1:c.1812_1816delinsAAAAC	ENSP00000479244.1:p.Lys604=
NM_001206846.1:c.4066-5233_4066-5229delinsAAAAC	NP_001193775.1:n.4066-5233_4066-5229delinsAAAAC
NM_018136.4:c.7854_7858delinsAAAAC	NP_060606.3:p.Lys2618=
NM_018136.5:c.7854_7858delinsAAAAC MANE Select	NP_060606.3:p.Lys2618=
NM_001206846.2:c.4066-5233_4066-5229delinsAAAAC	NP_001193775.1:n.4066-5233_4066-5229delinsAAAAC