Canonical Allele Identifier: CA1181408131
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021310_94021311delinsCG , CM000663.2:g.94021310_94021311delinsCG GRCh38
NC_000001.10:g.94486866_94486867delinsCG , CM000663.1:g.94486866_94486867delinsCG GRCh37
NC_000001.9:g.94259454_94259455delinsCG NCBI36
NG_009073.1:g.104839_104840delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4947_4948delinsCG MANE Select ENSP00000359245.3:p.Pro1649=
ENST00000370225.3:c.4947_4948delinsCG ENSP00000359245.3:p.Pro1649=
ENST00000460514.1:n.441_442delinsCG
ENST00000470771.1:n.57_58delinsCG
ENST00000536513.5:c.1323_1324delinsCG ENSP00000439707.2:p.Pro441=
NM_000350.2:c.4947_4948delinsCG NP_000341.2:p.Pro1649=
NM_000350.3:c.4947_4948delinsCG MANE Select NP_000341.2:p.Pro1649=
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