Canonical Allele Identifier: CA1217929636

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197100651_197100652delinsTG , CM000663.2:g.197100651_197100652delinsTG	GRCh38
NC_000001.10:g.197069781_197069782delinsTG , CM000663.1:g.197069781_197069782delinsTG	GRCh37
NC_000001.9:g.195336404_195336405delinsTG	NCBI36
NG_015867.1:g.51043_51044delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4488_2108-4487delinsCA
ENST00000367409.9:c.8599_8600delinsCA MANE Select	ENSP00000356379.4:p.Gln2867=
ENST00000680265.1:c.8599_8600delinsCA	ENSP00000505384.1:p.Gln2867=
ENST00000680710.1:c.8599_8600delinsCA	ENSP00000506676.1:p.Gln2867=
ENST00000294732.11:c.4066-4488_4066-4487delinsCA	ENSP00000294732.7:n.4066-4488_4066-4487delinsCA
ENST00000367408.5:c.1816-4488_1816-4487delinsCA	ENSP00000356378.1:n.1816-4488_1816-4487delinsCA
ENST00000367409.8:c.8599_8600delinsCA	ENSP00000356379.4:p.Gln2867=
ENST00000612785.1:c.2557_2558delinsCA	ENSP00000479244.1:p.Gln853=
NM_001206846.1:c.4066-4488_4066-4487delinsCA	NP_001193775.1:n.4066-4488_4066-4487delinsCA
NM_018136.4:c.8599_8600delinsCA	NP_060606.3:p.Gln2867=
NM_018136.5:c.8599_8600delinsCA MANE Select	NP_060606.3:p.Gln2867=
NM_001206846.2:c.4066-4488_4066-4487delinsCA	NP_001193775.1:n.4066-4488_4066-4487delinsCA