Canonical Allele Identifier: CA342215
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 21552
ClinVar RCV Id: RCV000020742

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197142988_197142994del , CM000663.2:g.197142988_197142994del GRCh38
NC_000001.10:g.197112118_197112124del , CM000663.1:g.197112118_197112124del GRCh37
NC_000001.9:g.195378741_195378747del NCBI36
NG_015867.1:g.8703_8709del

Transcript Alleles

HGVS Amino-acid change
ENST00000367409.9:c.1260_1266del MANE Select ENSP00000356379.4:p.Gln421HisfsTer?
ENST00000679766.1:n.1477_1483del
ENST00000680265.1:c.1260_1266del ENSP00000505384.1:p.Gln421HisfsTer?
ENST00000680710.1:n.1260_1266del ENSP00000506676.1:p.Gln421HisfsTer?
ENST00000681879.1:n.1260_1266del ENSP00000505363.1:p.Gln421HisfsTer?
ENST00000294732.11:c.1260_1266del ENSP00000294732.7:p.Gln421HisfsTer?
ENST00000367409.8:c.1260_1266del ENSP00000356379.4:p.Gln421HisfsTer?
ENST00000612785.1:c.561+699_561+705del ENSP00000479244.1:p.=
NM_001206846.1:c.1260_1266del NP_001193775.1:p.Gln421HisfsTer?
NM_018136.4:c.1260_1266del NP_060606.3:p.Gln421HisfsTer?
NM_018136.5:c.1260_1266del MANE Select NP_060606.3:p.Gln421HisfsTer?
NM_001206846.2:c.1260_1266del NP_001193775.1:p.Gln421HisfsTer?