Canonical Allele Identifier: CA227436
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99484
ClinVar RCV Id: RCV000085845
dbSNP Id: rs61751260
MyVariant Identifiers: chr1:g.94463437_94463438insC (hg19) chr1:g.93997881_93997882insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997881_93997882insC , CM000663.2:g.93997881_93997882insC GRCh38
NC_000001.10:g.94463437_94463438insC , CM000663.1:g.94463437_94463438insC GRCh37
NC_000001.9:g.94236025_94236026insC NCBI36
NG_009073.1:g.128268_128269insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6708_6709insG MANE Select ENSP00000359245.3:p.Thr2237AspfsTer14
ENST00000370225.3:c.6708_6709insG ENSP00000359245.3:p.Thr2237AspfsTer14
ENST00000536513.5:c.3084_3085insG ENSP00000439707.2:p.Thr1029AspfsTer14
NM_000350.2:c.6708_6709insG NP_000341.2:p.Thr2237AspfsTer14
NM_000350.3:c.6708_6709insG MANE Select NP_000341.2:p.Thr2237AspfsTer14
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