Canonical Allele Identifier: CA1143538147
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029447_94029453delinsGGGGGGG , CM000663.2:g.94029447_94029453delinsGGGGGGG GRCh38
NC_000001.10:g.94495003_94495009delinsGGGGGGG , CM000663.1:g.94495003_94495009delinsGGGGGGG GRCh37
NC_000001.9:g.94267591_94267597delinsGGGGGGG NCBI36
NG_009073.1:g.96697_96703delinsCCCCCCC

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4531_4537delinsCCCCCCC MANE Select ENSP00000359245.3:p.Pro1511=
ENST00000370225.3:c.4531_4537delinsCCCCCCC ENSP00000359245.3:p.Pro1511=
ENST00000536513.5:c.907_913delinsCCCCCCC ENSP00000439707.2:p.Pro303=
NM_000350.2:c.4531_4537delinsCCCCCCC NP_000341.2:p.Pro1511=
NM_000350.3:c.4531_4537delinsCCCCCCC MANE Select NP_000341.2:p.Pro1511=
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