Canonical Allele Identifier: CA2580061891

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2104291
• ClinVar RCV Id: RCV003031309

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104251_197104252delinsAA , CM000663.2:g.197104251_197104252delinsAA	GRCh38
NC_000001.10:g.197073381_197073382delinsAA , CM000663.1:g.197073381_197073382delinsAA	GRCh37
NC_000001.9:g.195340004_195340005delinsAA	NCBI36
NG_015867.1:g.47443_47444delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-8088_2108-8087delinsTT
ENST00000367409.9:c.4999_5000delinsTT MANE Select	ENSP00000356379.4:p.Arg1667Phe
ENST00000680265.1:c.4999_5000delinsTT	ENSP00000505384.1:p.Arg1667Phe
ENST00000680710.1:c.4999_5000delinsTT	ENSP00000506676.1:p.Arg1667Phe
ENST00000294732.11:c.4066-8088_4066-8087delinsTT	ENSP00000294732.7:n.4066-8088_4066-8087delinsTT
ENST00000367408.5:c.1816-8088_1816-8087delinsTT	ENSP00000356378.1:n.1816-8088_1816-8087delinsTT
ENST00000367409.8:c.4999_5000delinsTT	ENSP00000356379.4:p.Arg1667Phe
ENST00000612785.1:c.562-1605_562-1604delinsTT	ENSP00000479244.1:n.562-1605_562-1604delinsTT
NM_001206846.1:c.4066-8088_4066-8087delinsTT	NP_001193775.1:n.4066-8088_4066-8087delinsTT
NM_018136.4:c.4999_5000delinsTT	NP_060606.3:p.Arg1667Phe
NM_018136.5:c.4999_5000delinsTT MANE Select	NP_060606.3:p.Arg1667Phe
NM_001206846.2:c.4066-8088_4066-8087delinsTT	NP_001193775.1:n.4066-8088_4066-8087delinsTT