Canonical Allele Identifier: CA1181395043
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997875_93997883delinsTCTGTGTGA , CM000663.2:g.93997875_93997883delinsTCTGTGTGA GRCh38
NC_000001.10:g.94463431_94463439delinsTCTGTGTGA , CM000663.1:g.94463431_94463439delinsTCTGTGTGA GRCh37
NC_000001.9:g.94236019_94236027delinsTCTGTGTGA NCBI36
NG_009073.1:g.128267_128275delinsTCACACAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6707_6715delinsTCACACAGA MANE Select ENSP00000359245.3:p.Val2236=
ENST00000370225.3:c.6707_6715delinsTCACACAGA ENSP00000359245.3:p.Val2236=
ENST00000536513.5:c.3083_3091delinsTCACACAGA ENSP00000439707.2:p.Val1028=
NM_000350.2:c.6707_6715delinsTCACACAGA NP_000341.2:p.Val2236=
NM_000350.3:c.6707_6715delinsTCACACAGA MANE Select NP_000341.2:p.Val2236=
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