Canonical Allele Identifier: CA1148243425
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030490_94030491delinsAA , CM000663.2:g.94030490_94030491delinsAA GRCh38
NC_000001.10:g.94496046_94496047delinsAA , CM000663.1:g.94496046_94496047delinsAA GRCh37
NC_000001.9:g.94268634_94268635delinsAA NCBI36
NG_009073.1:g.95659_95660delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4289_4290delinsTT MANE Select ENSP00000359245.3:p.Leu1430=
ENST00000370225.3:c.4289_4290delinsTT ENSP00000359245.3:p.Leu1430=
ENST00000536513.5:c.665_666delinsTT ENSP00000439707.2:p.Leu222=
NM_000350.2:c.4289_4290delinsTT NP_000341.2:p.Leu1430=
NM_000350.3:c.4289_4290delinsTT MANE Select NP_000341.2:p.Leu1430=
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