Canonical Allele Identifier: CA1139656199
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 969222
ClinVar RCV Id: RCV001244518
dbSNP Id: rs1659914486
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021940del , CM000663.2:g.94021940del GRCh38
NC_000001.10:g.94487496del , CM000663.1:g.94487496del GRCh37
NC_000001.9:g.94260084del NCBI36
NG_009073.1:g.104212del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4681del MANE Select ENSP00000359245.3:p.Ser1561ProfsTer20
ENST00000370225.3:c.4681del ENSP00000359245.3:p.Ser1561ProfsTer20
ENST00000460514.1:n.175del
ENST00000536513.5:c.1057del ENSP00000439707.2:p.Ser353ProfsTer20
NM_000350.2:c.4681del NP_000341.2:p.Ser1561ProfsTer20
NM_000350.3:c.4681del MANE Select NP_000341.2:p.Ser1561ProfsTer20
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