Canonical Allele Identifier: CA1309619
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 234435
ClinVar RCV Id: RCV000217980
dbSNP Id: rs750664956

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197103068_197103069del , CM000663.2:g.197103068_197103069del GRCh38
NC_000001.10:g.197072198_197072199del , CM000663.1:g.197072198_197072199del GRCh37
NC_000001.9:g.195338821_195338822del NCBI36
NG_015867.1:g.48627_48628del

Transcript Alleles

HGVS Amino-acid change
ENST00000367408.6:n.2108-6904_2108-6903del
ENST00000367409.9:c.6183_6184del MANE Select ENSP00000356379.4:p.Lys2062IlefsTer5
ENST00000680265.1:c.6183_6184del ENSP00000505384.1:p.Lys2062IlefsTer5
ENST00000680710.1:n.6183_6184del ENSP00000506676.1:p.Lys2062IlefsTer5
ENST00000294732.11:c.4066-6904_4066-6903del ENSP00000294732.7:p.=
ENST00000367408.5:c.1816-6904_1816-6903del ENSP00000356378.1:p.=
ENST00000367409.8:c.6183_6184del ENSP00000356379.4:p.Lys2062IlefsTer5
ENST00000612785.1:c.562-421_562-420del ENSP00000479244.1:p.=
NM_001206846.1:c.4066-6904_4066-6903del NP_001193775.1:p.=
NM_018136.4:c.6183_6184del NP_060606.3:p.Lys2062IlefsTer5
NM_018136.5:c.6183_6184del MANE Select NP_060606.3:p.Lys2062IlefsTer5
NM_001206846.2:c.4066-6904_4066-6903del NP_001193775.1:p.=