Canonical Allele Identifier: CA342273
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197146364del , CM000663.2:g.197146364del GRCh38
NC_000001.10:g.197115494del , CM000663.1:g.197115494del GRCh37
NC_000001.9:g.195382117del NCBI36
NG_015867.1:g.5334del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367409.9:c.77del MANE Select ENSP00000356379.4:p.Gly26AlafsTer?
ENST00000679766.1:n.294del
ENST00000680265.1:c.77del ENSP00000505384.1:p.Gly26AlafsTer?
ENST00000680710.1:c.77del ENSP00000506676.1:p.Gly26AlafsTer?
ENST00000681879.1:c.77del ENSP00000505363.1:p.Gly26AlafsTer?
ENST00000294732.11:c.77del ENSP00000294732.7:p.Gly26AlafsTer?
ENST00000367409.8:c.77del ENSP00000356379.4:p.Gly26AlafsTer?
ENST00000612785.1:c.77del ENSP00000479244.1:p.Gly26AlafsTer?
NM_001206846.1:c.77del NP_001193775.1:p.Gly26AlafsTer?
NM_018136.4:c.77del NP_060606.3:p.Gly26AlafsTer?
NM_018136.5:c.77del MANE Select NP_060606.3:p.Gly26AlafsTer?
NM_001206846.2:c.77del NP_001193775.1:p.Gly26AlafsTer?