Canonical Allele Identifier: CA916082045
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 843110
ClinVar RCV Id: RCV001045653 RCV001074541
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001102_94001103delinsTG , CM000663.2:g.94001102_94001103delinsTG GRCh38
NC_000001.10:g.94466658_94466659delinsTG , CM000663.1:g.94466658_94466659delinsTG GRCh37
NC_000001.9:g.94239246_94239247delinsTG NCBI36
NG_009073.1:g.125047_125048delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6285_6286delinsCA MANE Select ENSP00000359245.3:p.Glu2096Lys
ENST00000370225.3:c.6285_6286delinsCA ENSP00000359245.3:p.Glu2096Lys
ENST00000536513.5:c.2661_2662delinsCA ENSP00000439707.2:p.Glu888Lys
NM_000350.2:c.6285_6286delinsCA NP_000341.2:p.Glu2096Lys
NM_000350.3:c.6285_6286delinsCA MANE Select NP_000341.2:p.Glu2096Lys
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