Canonical Allele Identifier: CA1217929662

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197100708_197100712delinsTGAAG , CM000663.2:g.197100708_197100712delinsTGAAG	GRCh38
NC_000001.10:g.197069838_197069842delinsTGAAG , CM000663.1:g.197069838_197069842delinsTGAAG	GRCh37
NC_000001.9:g.195336461_195336465delinsTGAAG	NCBI36
NG_015867.1:g.50983_50987delinsCTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4548_2108-4544delinsCTTCA
ENST00000367409.9:c.8539_8543delinsCTTCA MANE Select	ENSP00000356379.4:p.Leu2847=
ENST00000680265.1:c.8539_8543delinsCTTCA	ENSP00000505384.1:p.Leu2847=
ENST00000680710.1:c.8539_8543delinsCTTCA	ENSP00000506676.1:p.Leu2847=
ENST00000294732.11:c.4066-4548_4066-4544delinsCTTCA	ENSP00000294732.7:n.4066-4548_4066-4544delinsCTTCA
ENST00000367408.5:c.1816-4548_1816-4544delinsCTTCA	ENSP00000356378.1:n.1816-4548_1816-4544delinsCTTCA
ENST00000367409.8:c.8539_8543delinsCTTCA	ENSP00000356379.4:p.Leu2847=
ENST00000612785.1:c.2497_2501delinsCTTCA	ENSP00000479244.1:p.Leu833=
NM_001206846.1:c.4066-4548_4066-4544delinsCTTCA	NP_001193775.1:n.4066-4548_4066-4544delinsCTTCA
NM_018136.4:c.8539_8543delinsCTTCA	NP_060606.3:p.Leu2847=
NM_018136.5:c.8539_8543delinsCTTCA MANE Select	NP_060606.3:p.Leu2847=
NM_001206846.2:c.4066-4548_4066-4544delinsCTTCA	NP_001193775.1:n.4066-4548_4066-4544delinsCTTCA