Canonical Allele Identifier: CA1181407987
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011312_94011318delinsAGGCCCC , CM000663.2:g.94011312_94011318delinsAGGCCCC GRCh38
NC_000001.10:g.94476868_94476874delinsAGGCCCC , CM000663.1:g.94476868_94476874delinsAGGCCCC GRCh37
NC_000001.9:g.94249456_94249462delinsAGGCCCC NCBI36
NG_009073.1:g.114832_114838delinsGGGGCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5528_5534delinsGGGGCCT MANE Select ENSP00000359245.3:p.Arg1843=
ENST00000370225.3:c.5528_5534delinsGGGGCCT ENSP00000359245.3:p.Arg1843=
ENST00000536513.5:c.1904_1910delinsGGGGCCT ENSP00000439707.2:p.Arg635=
NM_000350.2:c.5528_5534delinsGGGGCCT NP_000341.2:p.Arg1843=
NM_000350.3:c.5528_5534delinsGGGGCCT MANE Select NP_000341.2:p.Arg1843=
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