Canonical Allele Identifier: CA1217929674

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197100751_197100753delinsCCA , CM000663.2:g.197100751_197100753delinsCCA	GRCh38
NC_000001.10:g.197069881_197069883delinsCCA , CM000663.1:g.197069881_197069883delinsCCA	GRCh37
NC_000001.9:g.195336504_195336506delinsCCA	NCBI36
NG_015867.1:g.50942_50944delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4589_2108-4587delinsTGG
ENST00000367409.9:c.8498_8500delinsTGG MANE Select	ENSP00000356379.4:p.Leu2833=
ENST00000680265.1:c.8498_8500delinsTGG	ENSP00000505384.1:p.Leu2833=
ENST00000680710.1:c.8498_8500delinsTGG	ENSP00000506676.1:p.Leu2833=
ENST00000294732.11:c.4066-4589_4066-4587delinsTGG	ENSP00000294732.7:n.4066-4589_4066-4587delinsTGG
ENST00000367408.5:c.1816-4589_1816-4587delinsTGG	ENSP00000356378.1:n.1816-4589_1816-4587delinsTGG
ENST00000367409.8:c.8498_8500delinsTGG	ENSP00000356379.4:p.Leu2833=
ENST00000612785.1:c.2456_2458delinsTGG	ENSP00000479244.1:p.Leu819=
NM_001206846.1:c.4066-4589_4066-4587delinsTGG	NP_001193775.1:n.4066-4589_4066-4587delinsTGG
NM_018136.4:c.8498_8500delinsTGG	NP_060606.3:p.Leu2833=
NM_018136.5:c.8498_8500delinsTGG MANE Select	NP_060606.3:p.Leu2833=
NM_001206846.2:c.4066-4589_4066-4587delinsTGG	NP_001193775.1:n.4066-4589_4066-4587delinsTGG