Canonical Allele Identifier: CA916082046
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 867176
ClinVar RCV Id: RCV001075768 RCV002554772
dbSNP Id: rs1659197672
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001931_94001932delinsTG , CM000663.2:g.94001931_94001932delinsTG GRCh38
NC_000001.10:g.94467487_94467488delinsTG , CM000663.1:g.94467487_94467488delinsTG GRCh37
NC_000001.9:g.94240075_94240076delinsTG NCBI36
NG_009073.1:g.124218_124219delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6208_6209delinsCA MANE Select ENSP00000359245.3:p.Thr2070Gln
ENST00000370225.3:c.6208_6209delinsCA ENSP00000359245.3:p.Thr2070Gln
ENST00000465352.1:n.624_625delinsCA
ENST00000536513.5:c.2584_2585delinsCA ENSP00000439707.2:p.Thr862Gln
NM_000350.2:c.6208_6209delinsCA NP_000341.2:p.Thr2070Gln
NM_000350.3:c.6208_6209delinsCA MANE Select NP_000341.2:p.Thr2070Gln
Search 100 bp 5'
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