Canonical Allele Identifier: CA1181409086
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021937_94021938delinsGA , CM000663.2:g.94021937_94021938delinsGA GRCh38
NC_000001.10:g.94487493_94487494delinsGA , CM000663.1:g.94487493_94487494delinsGA GRCh37
NC_000001.9:g.94260081_94260082delinsGA NCBI36
NG_009073.1:g.104212_104213delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4681_4682delinsTC MANE Select ENSP00000359245.3:p.Ser1561=
ENST00000370225.3:c.4681_4682delinsTC ENSP00000359245.3:p.Ser1561=
ENST00000460514.1:n.175_176delinsTC
ENST00000536513.5:c.1057_1058delinsTC ENSP00000439707.2:p.Ser353=
NM_000350.2:c.4681_4682delinsTC NP_000341.2:p.Ser1561=
NM_000350.3:c.4681_4682delinsTC MANE Select NP_000341.2:p.Ser1561=
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