Canonical Allele Identifier: CA1181418834
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062653_94062663delinsTTGTGATCCCC , CM000663.2:g.94062653_94062663delinsTTGTGATCCCC GRCh38
NC_000001.10:g.94528209_94528219delinsTTGTGATCCCC , CM000663.1:g.94528209_94528219delinsTTGTGATCCCC GRCh37
NC_000001.9:g.94300797_94300807delinsTTGTGATCCCC NCBI36
NG_009073.1:g.63487_63497delinsGGGGATCACAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1851_1861delinsGGGGATCACAA MANE Select ENSP00000359245.3:p.Gln617=
ENST00000649773.1:c.1851_1861delinsGGGGATCACAA ENSP00000496882.1:p.Gln617=
ENST00000370225.3:c.1851_1861delinsGGGGATCACAA ENSP00000359245.3:p.Gln617=
ENST00000536513.5:c.-65+511_-65+521delinsGGGGATCACAA ENSP00000439707.2:n.-65+511_-65+521delinsGGGGATCACAA
NM_000350.2:c.1851_1861delinsGGGGATCACAA NP_000341.2:p.Gln617=
NM_000350.3:c.1851_1861delinsGGGGATCACAA MANE Select NP_000341.2:p.Gln617=
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