Canonical Allele Identifier: CA2574438036
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007579del , CM000663.2:g.94007579del GRCh38
NC_000001.10:g.94473135del , CM000663.1:g.94473135del GRCh37
NC_000001.9:g.94245723del NCBI36
NG_009073.1:g.118572del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6005+56del MANE Select ENSP00000359245.3:n.6005+56del
ENST00000370225.3:c.6005+56del ENSP00000359245.3:n.6005+56del
ENST00000465352.1:n.421+56del
ENST00000484388.1:n.119+56del
ENST00000536513.5:c.2381+56del ENSP00000439707.2:n.2381+56del
NM_000350.2:c.6005+56del NP_000341.2:n.6005+56del
NM_000350.3:c.6005+56del MANE Select NP_000341.2:n.6005+56del