Canonical Allele Identifier: CA342244
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 21579
ClinVar RCV Id: RCV000020769
dbSNP Id: rs199422158

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197122238del , CM000663.2:g.197122238del GRCh38
NC_000001.10:g.197091368del , CM000663.1:g.197091368del GRCh37
NC_000001.9:g.195357991del NCBI36
NG_015867.1:g.29458del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.1705del
ENST00000367409.9:c.3663del MANE Select ENSP00000356379.4:p.Arg1221SerfsTer13
ENST00000680112.1:n.1719del
ENST00000680265.1:c.3663del ENSP00000505384.1:p.Arg1221SerfsTer13
ENST00000680710.1:c.3663del ENSP00000506676.1:p.Arg1221SerfsTer13
ENST00000681879.1:c.3663del ENSP00000505363.1:p.Arg1221SerfsTer13
ENST00000294732.11:c.3663del ENSP00000294732.7:p.Arg1221SerfsTer13
ENST00000367408.5:c.1413del ENSP00000356378.1:p.Arg471SerfsTer13
ENST00000367409.8:c.3663del ENSP00000356379.4:p.Arg1221SerfsTer13
ENST00000612785.1:c.562-19590del ENSP00000479244.1:n.562-19590del
NM_001206846.1:c.3663del NP_001193775.1:p.Arg1221SerfsTer13
NM_018136.4:c.3663del NP_060606.3:p.Arg1221SerfsTer13
NM_018136.5:c.3663del MANE Select NP_060606.3:p.Arg1221SerfsTer13
NM_001206846.2:c.3663del NP_001193775.1:p.Arg1221SerfsTer13