Canonical Allele Identifier: CA1181418864
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062748_94062749delinsCA , CM000663.2:g.94062748_94062749delinsCA GRCh38
NC_000001.10:g.94528304_94528305delinsCA , CM000663.1:g.94528304_94528305delinsCA GRCh37
NC_000001.9:g.94300892_94300893delinsCA NCBI36
NG_009073.1:g.63401_63402delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1765_1766delinsTG MANE Select ENSP00000359245.3:p.Trp589=
ENST00000649773.1:c.1765_1766delinsTG ENSP00000496882.1:p.Trp589=
ENST00000370225.3:c.1765_1766delinsTG ENSP00000359245.3:p.Trp589=
ENST00000536513.5:c.-65+425_-65+426delinsTG ENSP00000439707.2:n.-65+425_-65+426delinsTG
NM_000350.2:c.1765_1766delinsTG NP_000341.2:p.Trp589=
NM_000350.3:c.1765_1766delinsTG MANE Select NP_000341.2:p.Trp589=
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