Canonical Allele Identifier: CA2573974407
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197121832del , CM000663.2:g.197121832del GRCh38
NC_000001.10:g.197090962del , CM000663.1:g.197090962del GRCh37
NC_000001.9:g.195357585del NCBI36
NG_015867.1:g.29866del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.1912+86del
ENST00000367409.9:c.3870+86del MANE Select ENSP00000356379.4:n.3870+86del
ENST00000680265.1:c.3870+86del ENSP00000505384.1:n.3870+86del
ENST00000680710.1:c.3870+86del ENSP00000506676.1:n.3870+86del
ENST00000681879.1:c.3918+38del ENSP00000505363.1:n.3918+38del
ENST00000294732.11:c.3870+86del ENSP00000294732.7:n.3870+86del
ENST00000367408.5:c.1620+86del ENSP00000356378.1:n.1620+86del
ENST00000367409.8:c.3870+86del ENSP00000356379.4:n.3870+86del
ENST00000612785.1:c.562-19182del ENSP00000479244.1:n.562-19182del
NM_001206846.1:c.3870+86del NP_001193775.1:n.3870+86del
NM_018136.4:c.3870+86del NP_060606.3:n.3870+86del
NM_018136.5:c.3870+86del MANE Select NP_060606.3:n.3870+86del
NM_001206846.2:c.3870+86del NP_001193775.1:n.3870+86del