Canonical Allele Identifier: CA1217930351

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102596_197102600delinsCTGTT , CM000663.2:g.197102596_197102600delinsCTGTT	GRCh38
NC_000001.10:g.197071726_197071730delinsCTGTT , CM000663.1:g.197071726_197071730delinsCTGTT	GRCh37
NC_000001.9:g.195338349_195338353delinsCTGTT	NCBI36
NG_015867.1:g.49095_49099delinsAACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6436_2108-6432delinsAACAG
ENST00000367409.9:c.6651_6655delinsAACAG MANE Select	ENSP00000356379.4:p.Lys2217=
ENST00000680265.1:c.6651_6655delinsAACAG	ENSP00000505384.1:p.Lys2217=
ENST00000680710.1:c.6651_6655delinsAACAG	ENSP00000506676.1:p.Lys2217=
ENST00000294732.11:c.4066-6436_4066-6432delinsAACAG	ENSP00000294732.7:n.4066-6436_4066-6432delinsAACAG
ENST00000367408.5:c.1816-6436_1816-6432delinsAACAG	ENSP00000356378.1:n.1816-6436_1816-6432delinsAACAG
ENST00000367409.8:c.6651_6655delinsAACAG	ENSP00000356379.4:p.Lys2217=
ENST00000612785.1:c.609_613delinsAACAG	ENSP00000479244.1:p.Lys203=
NM_001206846.1:c.4066-6436_4066-6432delinsAACAG	NP_001193775.1:n.4066-6436_4066-6432delinsAACAG
NM_018136.4:c.6651_6655delinsAACAG	NP_060606.3:p.Lys2217=
NM_018136.5:c.6651_6655delinsAACAG MANE Select	NP_060606.3:p.Lys2217=
NM_001206846.2:c.4066-6436_4066-6432delinsAACAG	NP_001193775.1:n.4066-6436_4066-6432delinsAACAG