Canonical Allele Identifier: CA2586966888
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047070del , CM000663.2:g.94047070del GRCh38
NC_000001.10:g.94512626del , CM000663.1:g.94512626del GRCh37
NC_000001.9:g.94285214del NCBI36
NG_009073.1:g.79081del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2768del MANE Select ENSP00000359245.3:p.Pro923GlnfsTer9
ENST00000649773.1:c.2546del ENSP00000496882.1:p.Pro849GlnfsTer9
ENST00000370225.3:c.2768del ENSP00000359245.3:p.Pro923GlnfsTer9
ENST00000536513.5:c.-64-6980del ENSP00000439707.2:n.-64-6980del
NM_000350.2:c.2768del NP_000341.2:p.Pro923GlnfsTer9
NM_000350.3:c.2768del MANE Select NP_000341.2:p.Pro923GlnfsTer9