Canonical Allele Identifier: CA227242
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99323
ClinVar RCV Id: RCV000085676 RCV000999644 RCV001074975
dbSNP Id: rs61752438
gnomAD v4: 1-94021649-GT-G
MyVariant Identifiers: chr1:g.94487206del (hg19) chr1:g.94021650del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021650del , CM000663.2:g.94021650del GRCh38
NC_000001.10:g.94487206del , CM000663.1:g.94487206del GRCh37
NC_000001.9:g.94259794del NCBI36
NG_009073.1:g.104500del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4838del MANE Select ENSP00000359245.3:p.Asp1613AlafsTer?
ENST00000370225.3:c.4838del ENSP00000359245.3:p.Asp1613AlafsTer?
ENST00000460514.1:n.332del
ENST00000536513.5:c.1214del ENSP00000439707.2:p.Asp405AlafsTer?
NM_000350.2:c.4838del NP_000341.2:p.Asp1613AlafsTer?
NM_000350.3:c.4838del MANE Select NP_000341.2:p.Asp1613AlafsTer?
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