Canonical Allele Identifier: CA1217930492

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102993_197102996delinsCTGA , CM000663.2:g.197102993_197102996delinsCTGA	GRCh38
NC_000001.10:g.197072123_197072126delinsCTGA , CM000663.1:g.197072123_197072126delinsCTGA	GRCh37
NC_000001.9:g.195338746_195338749delinsCTGA	NCBI36
NG_015867.1:g.48699_48702delinsTCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6832_2108-6829delinsTCAG
ENST00000367409.9:c.6255_6258delinsTCAG MANE Select	ENSP00000356379.4:p.His2085=
ENST00000680265.1:c.6255_6258delinsTCAG	ENSP00000505384.1:p.His2085=
ENST00000680710.1:c.6255_6258delinsTCAG	ENSP00000506676.1:p.His2085=
ENST00000294732.11:c.4066-6832_4066-6829delinsTCAG	ENSP00000294732.7:n.4066-6832_4066-6829delinsTCAG
ENST00000367408.5:c.1816-6832_1816-6829delinsTCAG	ENSP00000356378.1:n.1816-6832_1816-6829delinsTCAG
ENST00000367409.8:c.6255_6258delinsTCAG	ENSP00000356379.4:p.His2085=
ENST00000612785.1:c.562-349_562-346delinsTCAG	ENSP00000479244.1:n.562-349_562-346delinsTCAG
NM_001206846.1:c.4066-6832_4066-6829delinsTCAG	NP_001193775.1:n.4066-6832_4066-6829delinsTCAG
NM_018136.4:c.6255_6258delinsTCAG	NP_060606.3:p.His2085=
NM_018136.5:c.6255_6258delinsTCAG MANE Select	NP_060606.3:p.His2085=
NM_001206846.2:c.4066-6832_4066-6829delinsTCAG	NP_001193775.1:n.4066-6832_4066-6829delinsTCAG