Canonical Allele Identifier: CA2586964146
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021641_94021642insA , CM000663.2:g.94021641_94021642insA GRCh38
NC_000001.10:g.94487197_94487198insA , CM000663.1:g.94487197_94487198insA GRCh37
NC_000001.9:g.94259785_94259786insA NCBI36
NG_009073.1:g.104508_104509insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4846_4847insT MANE Select ENSP00000359245.3:p.Lys1616IlefsTer5
ENST00000370225.3:c.4846_4847insT ENSP00000359245.3:p.Lys1616IlefsTer5
ENST00000460514.1:n.340_341insT
ENST00000536513.5:c.1222_1223insT ENSP00000439707.2:p.Lys408IlefsTer5
NM_000350.2:c.4846_4847insT NP_000341.2:p.Lys1616IlefsTer5
NM_000350.3:c.4846_4847insT MANE Select NP_000341.2:p.Lys1616IlefsTer5
Search 100 bp 5'
Search 100 bp 3'