Canonical Allele Identifier: CA2576373134
Gene: ABCA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.69253901del , CM000679.2:g.69253901del GRCh38
NC_000017.10:g.67250042del , CM000679.1:g.67250042del GRCh37
NC_000017.9:g.64761637del NCBI36
NG_034199.1:g.78283del

Transcript Alleles

HGVS Amino-acid Change
ENST00000392676.8:c.4245-31del MANE Select ENSP00000376443.2:n.4245-31del
ENST00000392676.7:c.4245-31del ENSP00000376443.2:n.4245-31del
ENST00000586811.1:c.1143-31del ENSP00000465351.1:n.1143-31del
ENST00000586995.5:c.3307-31del ENSP00000467251.1:n.3307-31del
ENST00000588877.5:c.4245-31del ENSP00000467882.1:n.4245-31del
ENST00000591234.5:c.2187-31del ENSP00000465766.1:n.2187-31del
NM_018672.4:c.4245-31del NP_061142.2:n.4245-31del
NM_172232.3:c.4245-31del NP_758424.1:n.4245-31del
NM_172232.4:c.4245-31del MANE Select NP_758424.1:n.4245-31del
NM_018672.5:c.4245-31del NP_061142.2:n.4245-31del