Canonical Allele Identifier: CA2747232282
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197143955del , CM000663.2:g.197143955del GRCh38
NC_000001.10:g.197113085del , CM000663.1:g.197113085del GRCh37
NC_000001.9:g.195379708del NCBI36
NG_015867.1:g.7740del

Transcript Alleles

HGVS Amino-acid change
ENST00000367409.9:c.441+2del MANE Select ENSP00000356379.4:n.441+2del
ENST00000679766.1:n.658+2del
ENST00000680265.1:c.441+2del ENSP00000505384.1:n.441+2del
ENST00000680710.1:c.441+2del ENSP00000506676.1:n.441+2del
ENST00000681879.1:c.441+2del ENSP00000505363.1:n.441+2del
ENST00000294732.11:c.441+2del ENSP00000294732.7:n.441+2del
ENST00000367409.8:c.441+2del ENSP00000356379.4:n.441+2del
ENST00000612785.1:c.441+2del ENSP00000479244.1:n.441+2del
NM_001206846.1:c.441+2del NP_001193775.1:n.441+2del
NM_018136.4:c.441+2del NP_060606.3:n.441+2del
NM_018136.5:c.441+2del MANE Select NP_060606.3:n.441+2del
NM_001206846.2:c.441+2del NP_001193775.1:n.441+2del