Canonical Allele Identifier: CA1181408523
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021649_94021650delinsGT , CM000663.2:g.94021649_94021650delinsGT GRCh38
NC_000001.10:g.94487205_94487206delinsGT , CM000663.1:g.94487205_94487206delinsGT GRCh37
NC_000001.9:g.94259793_94259794delinsGT NCBI36
NG_009073.1:g.104500_104501delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4838_4839delinsAC MANE Select ENSP00000359245.3:p.Asp1613=
ENST00000370225.3:c.4838_4839delinsAC ENSP00000359245.3:p.Asp1613=
ENST00000460514.1:n.332_333delinsAC
ENST00000536513.5:c.1214_1215delinsAC ENSP00000439707.2:p.Asp405=
NM_000350.2:c.4838_4839delinsAC NP_000341.2:p.Asp1613=
NM_000350.3:c.4838_4839delinsAC MANE Select NP_000341.2:p.Asp1613=
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