Canonical Allele Identifier: CA2574438645
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021682dup , CM000663.2:g.94021682dup GRCh38
NC_000001.10:g.94487238dup , CM000663.1:g.94487238dup GRCh37
NC_000001.9:g.94259826dup NCBI36
NG_009073.1:g.104468dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4806dup MANE Select ENSP00000359245.3:p.Pro1603ThrfsTer2
ENST00000370225.3:c.4806dup ENSP00000359245.3:p.Pro1603ThrfsTer2
ENST00000460514.1:n.300dup
ENST00000536513.5:c.1182dup ENSP00000439707.2:p.Pro395ThrfsTer2
NM_000350.2:c.4806dup NP_000341.2:p.Pro1603ThrfsTer2
NM_000350.3:c.4806dup MANE Select NP_000341.2:p.Pro1603ThrfsTer2
Search 100 bp 5'
Search 100 bp 3'