Canonical Allele Identifier: CA226970
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99111
ClinVar RCV Id: RCV000085455 RCV001074028 RCV001353038
dbSNP Id: rs61749422
gnomAD v4: 1-94060690-CAT-C
MyVariant Identifiers: chr1:g.94526247_94526248del (hg19) chr1:g.94060691_94060692del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060691_94060692del , CM000663.2:g.94060691_94060692del GRCh38
NC_000001.10:g.94526247_94526248del , CM000663.1:g.94526247_94526248del GRCh37
NC_000001.9:g.94298835_94298836del NCBI36
NG_009073.1:g.65458_65459del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2005_2006del MANE Select ENSP00000359245.3:p.Met669AspfsTer?
ENST00000649773.1:c.2005_2006del ENSP00000496882.1:p.Met669AspfsTer?
ENST00000370225.3:c.2005_2006del ENSP00000359245.3:p.Met669AspfsTer?
ENST00000472033.1:n.125_126del
ENST00000536513.5:c.-65+2482_-65+2483del ENSP00000439707.2:n.-65+2482_-65+2483del
NM_000350.2:c.2005_2006del NP_000341.2:p.Met669AspfsTer?
NM_000350.3:c.2005_2006del MANE Select NP_000341.2:p.Met669AspfsTer?
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