Canonical Allele Identifier: CA645372226
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997879dup , CM000663.2:g.93997879dup GRCh38
NC_000001.10:g.94463435dup , CM000663.1:g.94463435dup GRCh37
NC_000001.9:g.94236023dup NCBI36
NG_009073.1:g.128271dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6711dup MANE Select ENSP00000359245.3:p.Gln2238ThrfsTer13
ENST00000370225.3:c.6711dup ENSP00000359245.3:p.Gln2238ThrfsTer13
ENST00000536513.5:c.3087dup ENSP00000439707.2:p.Gln1030ThrfsTer13
NM_000350.2:c.6711dup NP_000341.2:p.Gln2238ThrfsTer13
NM_000350.3:c.6711dup MANE Select NP_000341.2:p.Gln2238ThrfsTer13
Search 100 bp 5'
Search 100 bp 3'