Canonical Allele Identifier: CA957170
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1658723
ClinVar RCV Id: RCV002174299
dbSNP Id: rs778975936
ExAC: 1:94476342 TG / T
gnomAD v2: 1-94476342-TG-T
gnomAD v3: 1-94010786-TG-T
gnomAD v4: 1-94010786-TG-T
MyVariant Identifiers: chr1:g.94476343del (hg19) chr1:g.94010787del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94010788del , CM000663.2:g.94010788del GRCh38
NC_000001.10:g.94476344del , CM000663.1:g.94476344del GRCh37
NC_000001.9:g.94248932del NCBI36
NG_009073.1:g.115363del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5714+13del MANE Select ENSP00000359245.3:n.5714+13del
ENST00000370225.3:c.5714+13del ENSP00000359245.3:n.5714+13del
ENST00000465352.1:n.130+13del
ENST00000536513.5:c.2090+13del ENSP00000439707.2:n.2090+13del
NM_000350.2:c.5714+13del NP_000341.2:n.5714+13del
NM_000350.3:c.5714+13del MANE Select NP_000341.2:n.5714+13del
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