Canonical Allele Identifier: CA1217929787

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101058_197101060delinsTTC , CM000663.2:g.197101058_197101060delinsTTC	GRCh38
NC_000001.10:g.197070188_197070190delinsTTC , CM000663.1:g.197070188_197070190delinsTTC	GRCh37
NC_000001.9:g.195336811_195336813delinsTTC	NCBI36
NG_015867.1:g.50635_50637delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4896_2108-4894delinsGAA
ENST00000367409.9:c.8191_8193delinsGAA MANE Select	ENSP00000356379.4:p.Glu2731=
ENST00000680265.1:c.8191_8193delinsGAA	ENSP00000505384.1:p.Glu2731=
ENST00000680710.1:c.8191_8193delinsGAA	ENSP00000506676.1:p.Glu2731=
ENST00000294732.11:c.4066-4896_4066-4894delinsGAA	ENSP00000294732.7:n.4066-4896_4066-4894delinsGAA
ENST00000367408.5:c.1816-4896_1816-4894delinsGAA	ENSP00000356378.1:n.1816-4896_1816-4894delinsGAA
ENST00000367409.8:c.8191_8193delinsGAA	ENSP00000356379.4:p.Glu2731=
ENST00000612785.1:c.2149_2151delinsGAA	ENSP00000479244.1:p.Glu717=
NM_001206846.1:c.4066-4896_4066-4894delinsGAA	NP_001193775.1:n.4066-4896_4066-4894delinsGAA
NM_018136.4:c.8191_8193delinsGAA	NP_060606.3:p.Glu2731=
NM_018136.5:c.8191_8193delinsGAA MANE Select	NP_060606.3:p.Glu2731=
NM_001206846.2:c.4066-4896_4066-4894delinsGAA	NP_001193775.1:n.4066-4896_4066-4894delinsGAA