Canonical Allele Identifier: CA26840747
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs376897138

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046868del , CM000663.2:g.94046868del GRCh38
NC_000001.10:g.94512424del , CM000663.1:g.94512424del GRCh37
NC_000001.9:g.94285012del NCBI36
NG_009073.1:g.79283del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2918+52del MANE Select ENSP00000359245.3:n.2918+52del
ENST00000649773.1:c.2696+52del ENSP00000496882.1:n.2696+52del
ENST00000370225.3:c.2918+52del ENSP00000359245.3:n.2918+52del
ENST00000536513.5:c.-64-6778del ENSP00000439707.2:n.-64-6778del
NM_000350.2:c.2918+52del NP_000341.2:n.2918+52del
NM_000350.3:c.2918+52del MANE Select NP_000341.2:n.2918+52del