Canonical Allele Identifier: CA956969
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs761373058
ExAC: 1:94467393 GC / G
gnomAD v2: 1-94467393-GC-G
gnomAD v4: 1-94001837-GC-G
MyVariant Identifiers: chr1:g.94467394del (hg19) chr1:g.94001838del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001838del , CM000663.2:g.94001838del GRCh38
NC_000001.10:g.94467394del , CM000663.1:g.94467394del GRCh37
NC_000001.9:g.94239982del NCBI36
NG_009073.1:g.124312del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6282+20del MANE Select ENSP00000359245.3:n.6282+20del
ENST00000370225.3:c.6282+20del ENSP00000359245.3:n.6282+20del
ENST00000465352.1:n.718del
ENST00000536513.5:c.2658+20del ENSP00000439707.2:n.2658+20del
NM_000350.2:c.6282+20del NP_000341.2:n.6282+20del
NM_000350.3:c.6282+20del MANE Select NP_000341.2:n.6282+20del
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