Canonical Allele Identifier: CA2586966884
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030486_94030492del , CM000663.2:g.94030486_94030492del GRCh38
NC_000001.10:g.94496042_94496048del , CM000663.1:g.94496042_94496048del GRCh37
NC_000001.9:g.94268630_94268636del NCBI36
NG_009073.1:g.95658_95664del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4288_4294del MANE Select ENSP00000359245.3:p.Leu1430ThrfsTer4
ENST00000370225.3:c.4288_4294del ENSP00000359245.3:p.Leu1430ThrfsTer4
ENST00000536513.5:c.664_670del ENSP00000439707.2:p.Leu222ThrfsTer4
NM_000350.2:c.4288_4294del NP_000341.2:p.Leu1430ThrfsTer4
NM_000350.3:c.4288_4294del MANE Select NP_000341.2:p.Leu1430ThrfsTer4
Search 100 bp 5'
Search 100 bp 3'