Canonical Allele Identifier: CA1217930840

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103854_197103857delinsCAAG , CM000663.2:g.197103854_197103857delinsCAAG	GRCh38
NC_000001.10:g.197072984_197072987delinsCAAG , CM000663.1:g.197072984_197072987delinsCAAG	GRCh37
NC_000001.9:g.195339607_195339610delinsCAAG	NCBI36
NG_015867.1:g.47838_47841delinsCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7693_2108-7690delinsCTTG
ENST00000367409.9:c.5394_5397delinsCTTG MANE Select	ENSP00000356379.4:p.Phe1798=
ENST00000680265.1:c.5394_5397delinsCTTG	ENSP00000505384.1:p.Phe1798=
ENST00000680710.1:c.5394_5397delinsCTTG	ENSP00000506676.1:p.Phe1798=
ENST00000294732.11:c.4066-7693_4066-7690delinsCTTG	ENSP00000294732.7:n.4066-7693_4066-7690delinsCTTG
ENST00000367408.5:c.1816-7693_1816-7690delinsCTTG	ENSP00000356378.1:n.1816-7693_1816-7690delinsCTTG
ENST00000367409.8:c.5394_5397delinsCTTG	ENSP00000356379.4:p.Phe1798=
ENST00000612785.1:c.562-1210_562-1207delinsCTTG	ENSP00000479244.1:n.562-1210_562-1207delinsCTTG
NM_001206846.1:c.4066-7693_4066-7690delinsCTTG	NP_001193775.1:n.4066-7693_4066-7690delinsCTTG
NM_018136.4:c.5394_5397delinsCTTG	NP_060606.3:p.Phe1798=
NM_018136.5:c.5394_5397delinsCTTG MANE Select	NP_060606.3:p.Phe1798=
NM_001206846.2:c.4066-7693_4066-7690delinsCTTG	NP_001193775.1:n.4066-7693_4066-7690delinsCTTG