Canonical Allele Identifier: CA1108695686
Gene: AOC1 HGNC NCBI

Linked Data

dbSNP Id: rs1799234242
gnomAD v3: 7-150832463-ACAAAAATTACC-A
gnomAD v4: 7-150832463-ACAAAAATTACC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150832466_150832476del , CM000669.2:g.150832466_150832476del GRCh38
NC_000007.13:g.150529554_150529564del , CM000669.1:g.150529554_150529564del GRCh37
NC_000007.12:g.150160487_150160497del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000467291.5:c.-93+5064_-93+5074del ENSP00000418328.1:n.-93+5064_-93+5074del
ENST00000493429.5:c.-93+5064_-93+5074del ENSP00000418614.1:n.-93+5064_-93+5074del
XM_011516008.1:c.-182+5064_-182+5074del XP_011514310.1:n.-182+5064_-182+5074del
XR_928169.1:n.352-3566_352-3556del
XR_928170.1:n.482-3566_482-3556del
XR_928171.1:n.354-3566_354-3556del
XM_017011944.1:c.-93+5064_-93+5074del XP_016867433.1:n.-93+5064_-93+5074del
XM_017011945.1:c.-93+5064_-93+5074del XP_016867434.1:n.-93+5064_-93+5074del
XR_928169.2:n.358-3566_358-3556del
XR_928171.2:n.358-3566_358-3556del
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