Canonical Allele Identifier: CA1181420897
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043427_94043428delinsCT , CM000663.2:g.94043427_94043428delinsCT GRCh38
NC_000001.10:g.94508983_94508984delinsCT , CM000663.1:g.94508983_94508984delinsCT GRCh37
NC_000001.9:g.94281571_94281572delinsCT NCBI36
NG_009073.1:g.82722_82723delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3098_3099delinsAG MANE Select ENSP00000359245.3:p.Lys1033=
ENST00000370225.3:c.3098_3099delinsAG ENSP00000359245.3:p.Lys1033=
ENST00000536513.5:c.-64-3339_-64-3338delinsAG ENSP00000439707.2:n.-64-3339_-64-3338delinsAG
NM_000350.2:c.3098_3099delinsAG NP_000341.2:p.Lys1033=
NM_000350.3:c.3098_3099delinsAG MANE Select NP_000341.2:p.Lys1033=
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