Canonical Allele Identifier: CA1139656231
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 954810
ClinVar RCV Id: RCV001227334
dbSNP Id: rs1661166046
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062725del , CM000663.2:g.94062725del GRCh38
NC_000001.10:g.94528281del , CM000663.1:g.94528281del GRCh37
NC_000001.9:g.94300869del NCBI36
NG_009073.1:g.63427del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1791del MANE Select ENSP00000359245.3:p.Val598TrpfsTer?
ENST00000649773.1:c.1791del ENSP00000496882.1:p.Val598TrpfsTer?
ENST00000370225.3:c.1791del ENSP00000359245.3:p.Val598TrpfsTer?
ENST00000536513.5:c.-65+451del ENSP00000439707.2:n.-65+451del
NM_000350.2:c.1791del NP_000341.2:p.Val598TrpfsTer?
NM_000350.3:c.1791del MANE Select NP_000341.2:p.Val598TrpfsTer?
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