Canonical Allele Identifier: CA2646646384
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011232del , CM000663.2:g.94011232del GRCh38
NC_000001.10:g.94476788del , CM000663.1:g.94476788del GRCh37
NC_000001.9:g.94249376del NCBI36
NG_009073.1:g.114920del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5584+32del MANE Select ENSP00000359245.3:n.5584+32del
ENST00000370225.3:c.5584+32del ENSP00000359245.3:n.5584+32del
ENST00000536513.5:c.1960+32del ENSP00000439707.2:n.1960+32del
NM_000350.2:c.5584+32del NP_000341.2:n.5584+32del
NM_000350.3:c.5584+32del MANE Select NP_000341.2:n.5584+32del