Canonical Allele Identifier: CA1181428051
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060656_94060657delinsGC , CM000663.2:g.94060656_94060657delinsGC GRCh38
NC_000001.10:g.94526212_94526213delinsGC , CM000663.1:g.94526212_94526213delinsGC GRCh37
NC_000001.9:g.94298800_94298801delinsGC NCBI36
NG_009073.1:g.65493_65494delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2040_2041delinsGC MANE Select ENSP00000359245.3:p.Leu680=
ENST00000649773.1:c.2040_2041delinsGC ENSP00000496882.1:p.Leu680=
ENST00000370225.3:c.2040_2041delinsGC ENSP00000359245.3:p.Leu680=
ENST00000472033.1:n.160_161delinsGC
ENST00000536513.5:c.-65+2517_-65+2518delinsGC ENSP00000439707.2:n.-65+2517_-65+2518delinsGC
NM_000350.2:c.2040_2041delinsGC NP_000341.2:p.Leu680=
NM_000350.3:c.2040_2041delinsGC MANE Select NP_000341.2:p.Leu680=
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