Canonical Allele Identifier: CA340324
Gene: ASPM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4959
ClinVar RCV Id: RCV000005247
dbSNP Id: rs199422184

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197093189del , CM000663.2:g.197093189del GRCh38
NC_000001.10:g.197062319del , CM000663.1:g.197062319del GRCh37
NC_000001.9:g.195328942del NCBI36
NG_015867.1:g.58508del

Transcript Alleles

HGVS Amino-acid change
NM_001206846.1:c.4404del VV NP_001193775.1:p.Lys1468AsnfsTer5
NM_018136.4:c.9159del VV NP_060606.3:p.Lys3053AsnfsTer5
NM_018136.5:c.9159del VV MANE Preferred NP_060606.3:p.Lys3053AsnfsTer5
ENST00000294732.11:c.4404del ENSP00000294732.7:p.Lys1468AsnfsTer5
ENST00000367408.5:c.2154del ENSP00000356378.1:p.Lys718AsnfsTer5
ENST00000367409.8:c.9159del ENSP00000356379.4:p.Lys3053AsnfsTer5
ENST00000612785.1:c.3117del ENSP00000479244.1:p.Lys1039AsnfsTer5