Canonical Allele Identifier: CA1217929785
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197101054_197101056delinsTTC , CM000663.2:g.197101054_197101056delinsTTC GRCh38
NC_000001.10:g.197070184_197070186delinsTTC , CM000663.1:g.197070184_197070186delinsTTC GRCh37
NC_000001.9:g.195336807_195336809delinsTTC NCBI36
NG_015867.1:g.50639_50641delinsGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-4892_2108-4890delinsGAA
ENST00000367409.9:c.8195_8197delinsGAA MANE Select ENSP00000356379.4:p.Arg2732=
ENST00000680265.1:c.8195_8197delinsGAA ENSP00000505384.1:p.Arg2732=
ENST00000680710.1:c.8195_8197delinsGAA ENSP00000506676.1:p.Arg2732=
ENST00000294732.11:c.4066-4892_4066-4890delinsGAA ENSP00000294732.7:n.4066-4892_4066-4890delinsGAA
ENST00000367408.5:c.1816-4892_1816-4890delinsGAA ENSP00000356378.1:n.1816-4892_1816-4890delinsGAA
ENST00000367409.8:c.8195_8197delinsGAA ENSP00000356379.4:p.Arg2732=
ENST00000612785.1:c.2153_2155delinsGAA ENSP00000479244.1:p.Arg718=
NM_001206846.1:c.4066-4892_4066-4890delinsGAA NP_001193775.1:n.4066-4892_4066-4890delinsGAA
NM_018136.4:c.8195_8197delinsGAA NP_060606.3:p.Arg2732=
NM_018136.5:c.8195_8197delinsGAA MANE Select NP_060606.3:p.Arg2732=
NM_001206846.2:c.4066-4892_4066-4890delinsGAA NP_001193775.1:n.4066-4892_4066-4890delinsGAA