Canonical Allele Identifier: CA958125
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2010152
ClinVar RCV Id: RCV002842964
dbSNP Id: rs761689153

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046946del , CM000663.2:g.94046946del GRCh38
NC_000001.10:g.94512502del , CM000663.1:g.94512502del GRCh37
NC_000001.9:g.94285090del NCBI36
NG_009073.1:g.79204del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2891del MANE Select ENSP00000359245.3:p.His964ProfsTer13
ENST00000649773.1:c.2669del ENSP00000496882.1:p.His890ProfsTer26
ENST00000370225.3:c.2891del ENSP00000359245.3:p.His964ProfsTer13
ENST00000536513.5:c.-64-6857del ENSP00000439707.2:n.-64-6857del
NM_000350.2:c.2891del NP_000341.2:p.His964ProfsTer13
NM_000350.3:c.2891del MANE Select NP_000341.2:p.His964ProfsTer13