Canonical Allele Identifier: CA2580063338
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2017287
ClinVar RCV Id: RCV002835127
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060616del , CM000663.2:g.94060616del GRCh38
NC_000001.10:g.94526172del , CM000663.1:g.94526172del GRCh37
NC_000001.9:g.94298760del NCBI36
NG_009073.1:g.65534del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2081del MANE Select ENSP00000359245.3:p.Ala694GlufsTer2
ENST00000649773.1:c.2081del ENSP00000496882.1:p.Ala694GlufsTer2
ENST00000370225.3:c.2081del ENSP00000359245.3:p.Ala694GlufsTer2
ENST00000472033.1:n.201del
ENST00000536513.5:c.-65+2558del ENSP00000439707.2:n.-65+2558del
NM_000350.2:c.2081del NP_000341.2:p.Ala694GlufsTer2
NM_000350.3:c.2081del MANE Select NP_000341.2:p.Ala694GlufsTer2
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Search 100 bp 3'