Canonical Allele Identifier: CA1140726021
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060691_94060692delinsAT , CM000663.2:g.94060691_94060692delinsAT GRCh38
NC_000001.10:g.94526247_94526248delinsAT , CM000663.1:g.94526247_94526248delinsAT GRCh37
NC_000001.9:g.94298835_94298836delinsAT NCBI36
NG_009073.1:g.65458_65459delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2005_2006delinsAT MANE Select ENSP00000359245.3:p.Met669=
ENST00000649773.1:c.2005_2006delinsAT ENSP00000496882.1:p.Met669=
ENST00000370225.3:c.2005_2006delinsAT ENSP00000359245.3:p.Met669=
ENST00000472033.1:n.125_126delinsAT
ENST00000536513.5:c.-65+2482_-65+2483delinsAT ENSP00000439707.2:n.-65+2482_-65+2483delinsAT
NM_000350.2:c.2005_2006delinsAT NP_000341.2:p.Met669=
NM_000350.3:c.2005_2006delinsAT MANE Select NP_000341.2:p.Met669=
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