Canonical Allele Identifier: CA342218
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 21555
ClinVar RCV Id: RCV000020745
dbSNP Id: rs199422142

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197142840_197142847del , CM000663.2:g.197142840_197142847del GRCh38
NC_000001.10:g.197111970_197111977del , CM000663.1:g.197111970_197111977del GRCh37
NC_000001.9:g.195378593_195378600del NCBI36
NG_015867.1:g.8849_8856del

Transcript Alleles

HGVS Amino-acid change
ENST00000367409.9:c.1406_1413del MANE Select ENSP00000356379.4:p.Asn469IlefsTer9
ENST00000679766.1:n.1623_1630del
ENST00000680265.1:c.1406_1413del ENSP00000505384.1:p.Asn469IlefsTer9
ENST00000680710.1:n.1406_1413del ENSP00000506676.1:p.Asn469IlefsTer9
ENST00000681879.1:n.1406_1413del ENSP00000505363.1:p.Asn469IlefsTer9
ENST00000294732.11:c.1406_1413del ENSP00000294732.7:p.Asn469IlefsTer9
ENST00000367409.8:c.1406_1413del ENSP00000356379.4:p.Asn469IlefsTer9
ENST00000612785.1:c.561+845_561+852del ENSP00000479244.1:p.=
NM_001206846.1:c.1406_1413del NP_001193775.1:p.Asn469IlefsTer9
NM_018136.4:c.1406_1413del NP_060606.3:p.Asn469IlefsTer9
NM_018136.5:c.1406_1413del MANE Select NP_060606.3:p.Asn469IlefsTer9
NM_001206846.2:c.1406_1413del NP_001193775.1:p.Asn469IlefsTer9