Canonical Allele Identifier: CA1181428052
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1013518
ClinVar RCV Id: RCV001312083
dbSNP Id: rs1661097693
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060657del , CM000663.2:g.94060657del GRCh38
NC_000001.10:g.94526213del , CM000663.1:g.94526213del GRCh37
NC_000001.9:g.94298801del NCBI36
NG_009073.1:g.65493del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2040del MANE Select ENSP00000359245.3:p.Leu680PhefsTer3
ENST00000649773.1:c.2040del ENSP00000496882.1:p.Leu680PhefsTer3
ENST00000370225.3:c.2040del ENSP00000359245.3:p.Leu680PhefsTer3
ENST00000472033.1:n.160del
ENST00000536513.5:c.-65+2517del ENSP00000439707.2:n.-65+2517del
NM_000350.2:c.2040del NP_000341.2:p.Leu680PhefsTer3
NM_000350.3:c.2040del MANE Select NP_000341.2:p.Leu680PhefsTer3
Search 100 bp 5'
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