Canonical Allele Identifier: CA645372225
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997880_93997881insC , CM000663.2:g.93997880_93997881insC GRCh38
NC_000001.10:g.94463436_94463437insC , CM000663.1:g.94463436_94463437insC GRCh37
NC_000001.9:g.94236024_94236025insC NCBI36
NG_009073.1:g.128269_128270insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6709_6710insG MANE Select ENSP00000359245.3:p.Thr2237SerfsTer14
ENST00000370225.3:c.6709_6710insG ENSP00000359245.3:p.Thr2237SerfsTer14
ENST00000536513.5:c.3085_3086insG ENSP00000439707.2:p.Thr1029SerfsTer14
NM_000350.2:c.6709_6710insG NP_000341.2:p.Thr2237SerfsTer14
NM_000350.3:c.6709_6710insG MANE Select NP_000341.2:p.Thr2237SerfsTer14
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