Canonical Allele Identifier: CA2739272644
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2832274
ClinVar RCV Id: RCV003689424
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021340del , CM000663.2:g.94021340del GRCh38
NC_000001.10:g.94486896del , CM000663.1:g.94486896del GRCh37
NC_000001.9:g.94259484del NCBI36
NG_009073.1:g.104810del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4918del MANE Select ENSP00000359245.3:p.Arg1640GlyfsTer22
ENST00000370225.3:c.4918del ENSP00000359245.3:p.Arg1640GlyfsTer22
ENST00000460514.1:n.412del
ENST00000470771.1:n.28del
ENST00000536513.5:c.1294del ENSP00000439707.2:p.Arg432GlyfsTer22
NM_000350.2:c.4918del NP_000341.2:p.Arg1640GlyfsTer22
NM_000350.3:c.4918del MANE Select NP_000341.2:p.Arg1640GlyfsTer22
Search 100 bp 5'
Search 100 bp 3'