Canonical Allele Identifier: CA2573132716
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1372740
ClinVar RCV Id: RCV001908095
dbSNP Id: rs2101057149
gnomAD v4: 1-94046957-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046958del , CM000663.2:g.94046958del GRCh38
NC_000001.10:g.94512514del , CM000663.1:g.94512514del GRCh37
NC_000001.9:g.94285102del NCBI36
NG_009073.1:g.79192del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2879del MANE Select ENSP00000359245.3:p.Ala960AspfsTer17
ENST00000649773.1:c.2657del ENSP00000496882.1:p.Ala886AspfsTer30
ENST00000370225.3:c.2879del ENSP00000359245.3:p.Ala960AspfsTer17
ENST00000536513.5:c.-64-6869del ENSP00000439707.2:n.-64-6869del
NM_000350.2:c.2879del NP_000341.2:p.Ala960AspfsTer17
NM_000350.3:c.2879del MANE Select NP_000341.2:p.Ala960AspfsTer17
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