Canonical Allele Identifier: CA2573973831
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197128706del , CM000663.2:g.197128706del GRCh38
NC_000001.10:g.197097836del , CM000663.1:g.197097836del GRCh37
NC_000001.9:g.195364459del NCBI36
NG_015867.1:g.22989del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.672del
ENST00000367409.9:c.2761-41del MANE Select ENSP00000356379.4:n.2761-41del
ENST00000680112.1:n.817-41del
ENST00000680265.1:c.2761-41del ENSP00000505384.1:n.2761-41del
ENST00000680710.1:c.2761-41del ENSP00000506676.1:n.2761-41del
ENST00000681879.1:c.2761-41del ENSP00000505363.1:n.2761-41del
ENST00000294732.11:c.2761-41del ENSP00000294732.7:n.2761-41del
ENST00000367408.5:c.511-41del ENSP00000356378.1:n.511-41del
ENST00000367409.8:c.2761-41del ENSP00000356379.4:n.2761-41del
ENST00000612785.1:c.561+14985del ENSP00000479244.1:n.561+14985del
NM_001206846.1:c.2761-41del NP_001193775.1:n.2761-41del
NM_018136.4:c.2761-41del NP_060606.3:n.2761-41del
NM_018136.5:c.2761-41del MANE Select NP_060606.3:n.2761-41del
NM_001206846.2:c.2761-41del NP_001193775.1:n.2761-41del