Canonical Allele Identifier: CA1140726077
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062666_94062667delinsTT , CM000663.2:g.94062666_94062667delinsTT GRCh38
NC_000001.10:g.94528222_94528223delinsTT , CM000663.1:g.94528222_94528223delinsTT GRCh37
NC_000001.9:g.94300810_94300811delinsTT NCBI36
NG_009073.1:g.63483_63484delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1847_1848delinsAA MANE Select ENSP00000359245.3:p.Glu616=
ENST00000649773.1:c.1847_1848delinsAA ENSP00000496882.1:p.Glu616=
ENST00000370225.3:c.1847_1848delinsAA ENSP00000359245.3:p.Glu616=
ENST00000536513.5:c.-65+507_-65+508delinsAA ENSP00000439707.2:n.-65+507_-65+508delinsAA
NM_000350.2:c.1847_1848delinsAA NP_000341.2:p.Glu616=
NM_000350.3:c.1847_1848delinsAA MANE Select NP_000341.2:p.Glu616=
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