Canonical Allele Identifier: CA2744616667
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031101_94031102insCCAAACACACCCAACAC , CM000663.2:g.94031101_94031102insCCAAACACACCCAACAC GRCh38
NC_000001.10:g.94496657_94496658insCCAAACACACCCAACAC , CM000663.1:g.94496657_94496658insCCAAACACACCCAACAC GRCh37
NC_000001.9:g.94269245_94269246insCCAAACACACCCAACAC NCBI36
NG_009073.1:g.95048_95049insGTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4147_4148insGTGTTGGGTGTGTTTGG MANE Select ENSP00000359245.3:p.Phe1383CysfsTer12
ENST00000370225.3:c.4147_4148insGTGTTGGGTGTGTTTGG ENSP00000359245.3:p.Phe1383CysfsTer12
ENST00000536513.5:c.523_524insGTGTTGGGTGTGTTTGG ENSP00000439707.2:p.Phe175CysfsTer12
NM_000350.2:c.4147_4148insGTGTTGGGTGTGTTTGG NP_000341.2:p.Phe1383CysfsTer12
NM_000350.3:c.4147_4148insGTGTTGGGTGTGTTTGG MANE Select NP_000341.2:p.Phe1383CysfsTer12
Search 100 bp 5'
Search 100 bp 3'