Canonical Allele Identifier: CA2649662702
Gene: ASPM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197128595del , CM000663.2:g.197128595del GRCh38
NC_000001.10:g.197097725del , CM000663.1:g.197097725del GRCh37
NC_000001.9:g.195364348del NCBI36
NG_015867.1:g.23101del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.784del
ENST00000367409.9:c.2832del MANE Select ENSP00000356379.4:p.Gly945AlafsTer26
ENST00000680112.1:n.888del
ENST00000680265.1:c.2832del ENSP00000505384.1:p.Gly945AlafsTer26
ENST00000680710.1:c.2832del ENSP00000506676.1:p.Gly945AlafsTer26
ENST00000681879.1:c.2832del ENSP00000505363.1:p.Gly945AlafsTer26
ENST00000294732.11:c.2832del ENSP00000294732.7:p.Gly945AlafsTer26
ENST00000367408.5:c.582del ENSP00000356378.1:p.Gly195AlafsTer26
ENST00000367409.8:c.2832del ENSP00000356379.4:p.Gly945AlafsTer26
ENST00000612785.1:c.561+15097del ENSP00000479244.1:n.561+15097del
NM_001206846.1:c.2832del NP_001193775.1:p.Gly945AlafsTer26
NM_018136.4:c.2832del NP_060606.3:p.Gly945AlafsTer26
NM_018136.5:c.2832del MANE Select NP_060606.3:p.Gly945AlafsTer26
NM_001206846.2:c.2832del NP_001193775.1:p.Gly945AlafsTer26