Canonical Allele Identifier: CA1217945749

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142769_197142771delinsCAG , CM000663.2:g.197142769_197142771delinsCAG	GRCh38
NC_000001.10:g.197111899_197111901delinsCAG , CM000663.1:g.197111899_197111901delinsCAG	GRCh37
NC_000001.9:g.195378522_195378524delinsCAG	NCBI36
NG_015867.1:g.8924_8926delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1481_1483delinsCTG MANE Select	ENSP00000356379.4:p.Ser494=
ENST00000679766.1:n.1698_1700delinsCTG
ENST00000680265.1:c.1481_1483delinsCTG	ENSP00000505384.1:p.Ser494=
ENST00000680710.1:c.1481_1483delinsCTG	ENSP00000506676.1:p.Ser494=
ENST00000681879.1:c.1481_1483delinsCTG	ENSP00000505363.1:p.Ser494=
ENST00000294732.11:c.1481_1483delinsCTG	ENSP00000294732.7:p.Ser494=
ENST00000367409.8:c.1481_1483delinsCTG	ENSP00000356379.4:p.Ser494=
ENST00000612785.1:c.561+920_561+922delinsCTG	ENSP00000479244.1:n.561+920_561+922delinsCTG
NM_001206846.1:c.1481_1483delinsCTG	NP_001193775.1:p.Ser494=
NM_018136.4:c.1481_1483delinsCTG	NP_060606.3:p.Ser494=
NM_018136.5:c.1481_1483delinsCTG MANE Select	NP_060606.3:p.Ser494=
NM_001206846.2:c.1481_1483delinsCTG	NP_001193775.1:p.Ser494=