Canonical Allele Identifier: CA2580611177
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2506637
ClinVar RCV Id: RCV003237006
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060618_94060624delinsTGAACCAGGT , CM000663.2:g.94060618_94060624delinsTGAACCAGGT GRCh38
NC_000001.10:g.94526174_94526180delinsTGAACCAGGT , CM000663.1:g.94526174_94526180delinsTGAACCAGGT GRCh37
NC_000001.9:g.94298762_94298768delinsTGAACCAGGT NCBI36
NG_009073.1:g.65526_65532delinsACCTGGTTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2073_2079delinsACCTGGTTCA MANE Select ENSP00000359245.3:p.Ser692_Asn693delinsProGlySer
ENST00000649773.1:c.2073_2079delinsACCTGGTTCA ENSP00000496882.1:p.Ser692_Asn693delinsProGlySer
ENST00000370225.3:c.2073_2079delinsACCTGGTTCA ENSP00000359245.3:p.Ser692_Asn693delinsProGlySer
ENST00000472033.1:n.193_199delinsACCTGGTTCA
ENST00000536513.5:c.-65+2550_-65+2556delinsACCTGGTTCA ENSP00000439707.2:n.-65+2550_-65+2556delinsACCTGGTTCA
NM_000350.2:c.2073_2079delinsACCTGGTTCA NP_000341.2:p.Ser692_Asn693delinsProGlySer
NM_000350.3:c.2073_2079delinsACCTGGTTCA MANE Select NP_000341.2:p.Ser692_Asn693delinsProGlySer
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