Canonical Allele Identifier: CA342210
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 21548
ClinVar RCV Id: RCV000020738
dbSNP Id: rs199422136

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197143250del , CM000663.2:g.197143250del GRCh38
NC_000001.10:g.197112380del , CM000663.1:g.197112380del GRCh37
NC_000001.9:g.195379003del NCBI36
NG_015867.1:g.8445del

Transcript Alleles

HGVS Amino-acid change
ENST00000367409.9:c.1002del MANE Select ENSP00000356379.4:p.Val335Ter
ENST00000679766.1:n.1219del
ENST00000680265.1:c.1002del ENSP00000505384.1:p.Val335Ter
ENST00000680710.1:n.1002del ENSP00000506676.1:p.Val335Ter
ENST00000681879.1:n.1002del ENSP00000505363.1:p.Val335Ter
ENST00000294732.11:c.1002del ENSP00000294732.7:p.Val335Ter
ENST00000367409.8:c.1002del ENSP00000356379.4:p.Val335Ter
ENST00000612785.1:c.561+441del ENSP00000479244.1:p.=
NM_001206846.1:c.1002del NP_001193775.1:p.Val335Ter
NM_018136.4:c.1002del NP_060606.3:p.Val335Ter
NM_018136.5:c.1002del MANE Select NP_060606.3:p.Val335Ter
NM_001206846.2:c.1002del NP_001193775.1:p.Val335Ter