Canonical Allele Identifier: CA1217929720

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197100872_197100873delinsCA , CM000663.2:g.197100872_197100873delinsCA	GRCh38
NC_000001.10:g.197070002_197070003delinsCA , CM000663.1:g.197070002_197070003delinsCA	GRCh37
NC_000001.9:g.195336625_195336626delinsCA	NCBI36
NG_015867.1:g.50822_50823delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-4709_2108-4708delinsTG
ENST00000367409.9:c.8378_8379delinsTG MANE Select	ENSP00000356379.4:p.Met2793=
ENST00000680265.1:c.8378_8379delinsTG	ENSP00000505384.1:p.Met2793=
ENST00000680710.1:c.8378_8379delinsTG	ENSP00000506676.1:p.Met2793=
ENST00000294732.11:c.4066-4709_4066-4708delinsTG	ENSP00000294732.7:n.4066-4709_4066-4708delinsTG
ENST00000367408.5:c.1816-4709_1816-4708delinsTG	ENSP00000356378.1:n.1816-4709_1816-4708delinsTG
ENST00000367409.8:c.8378_8379delinsTG	ENSP00000356379.4:p.Met2793=
ENST00000612785.1:c.2336_2337delinsTG	ENSP00000479244.1:p.Met779=
NM_001206846.1:c.4066-4709_4066-4708delinsTG	NP_001193775.1:n.4066-4709_4066-4708delinsTG
NM_018136.4:c.8378_8379delinsTG	NP_060606.3:p.Met2793=
NM_018136.5:c.8378_8379delinsTG MANE Select	NP_060606.3:p.Met2793=
NM_001206846.2:c.4066-4709_4066-4708delinsTG	NP_001193775.1:n.4066-4709_4066-4708delinsTG