Canonical Allele Identifier: CA1217946617

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142415_197142418delinsCTGA , CM000663.2:g.197142415_197142418delinsCTGA	GRCh38
NC_000001.10:g.197111545_197111548delinsCTGA , CM000663.1:g.197111545_197111548delinsCTGA	GRCh37
NC_000001.9:g.195378168_195378171delinsCTGA	NCBI36
NG_015867.1:g.9277_9280delinsTCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1834_1837delinsTCAG MANE Select	ENSP00000356379.4:p.Ser612=
ENST00000679766.1:n.2051_2054delinsTCAG
ENST00000680265.1:c.1834_1837delinsTCAG	ENSP00000505384.1:p.Ser612=
ENST00000680710.1:c.1834_1837delinsTCAG	ENSP00000506676.1:p.Ser612=
ENST00000681879.1:c.1834_1837delinsTCAG	ENSP00000505363.1:p.Ser612=
ENST00000294732.11:c.1834_1837delinsTCAG	ENSP00000294732.7:p.Ser612=
ENST00000367409.8:c.1834_1837delinsTCAG	ENSP00000356379.4:p.Ser612=
ENST00000612785.1:c.561+1273_561+1276delinsTCAG	ENSP00000479244.1:n.561+1273_561+1276delinsTCAG
NM_001206846.1:c.1834_1837delinsTCAG	NP_001193775.1:p.Ser612=
NM_018136.4:c.1834_1837delinsTCAG	NP_060606.3:p.Ser612=
NM_018136.5:c.1834_1837delinsTCAG MANE Select	NP_060606.3:p.Ser612=
NM_001206846.2:c.1834_1837delinsTCAG	NP_001193775.1:p.Ser612=