Canonical Allele Identifier: CA1217930335

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102533_197102535delinsTCA , CM000663.2:g.197102533_197102535delinsTCA	GRCh38
NC_000001.10:g.197071663_197071665delinsTCA , CM000663.1:g.197071663_197071665delinsTCA	GRCh37
NC_000001.9:g.195338286_195338288delinsTCA	NCBI36
NG_015867.1:g.49160_49162delinsTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6371_2108-6369delinsTGA
ENST00000367409.9:c.6716_6718delinsTGA MANE Select	ENSP00000356379.4:p.Leu2239=
ENST00000680265.1:c.6716_6718delinsTGA	ENSP00000505384.1:p.Leu2239=
ENST00000680710.1:c.6716_6718delinsTGA	ENSP00000506676.1:p.Leu2239=
ENST00000294732.11:c.4066-6371_4066-6369delinsTGA	ENSP00000294732.7:n.4066-6371_4066-6369delinsTGA
ENST00000367408.5:c.1816-6371_1816-6369delinsTGA	ENSP00000356378.1:n.1816-6371_1816-6369delinsTGA
ENST00000367409.8:c.6716_6718delinsTGA	ENSP00000356379.4:p.Leu2239=
ENST00000612785.1:c.674_676delinsTGA	ENSP00000479244.1:p.Leu225=
NM_001206846.1:c.4066-6371_4066-6369delinsTGA	NP_001193775.1:n.4066-6371_4066-6369delinsTGA
NM_018136.4:c.6716_6718delinsTGA	NP_060606.3:p.Leu2239=
NM_018136.5:c.6716_6718delinsTGA MANE Select	NP_060606.3:p.Leu2239=
NM_001206846.2:c.4066-6371_4066-6369delinsTGA	NP_001193775.1:n.4066-6371_4066-6369delinsTGA