Canonical Allele Identifier: CA2686436765
Gene: HR HGNC NCBI

Linked Data

gnomAD v4: 8-22123627-CCA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22123629_22123630del , CM000670.2:g.22123629_22123630del GRCh38
NC_000008.10:g.21981142_21981143del , CM000670.1:g.21981142_21981143del GRCh37
NC_000008.9:g.22037087_22037088del NCBI36
NG_008166.1:g.11889_11890del

Transcript Alleles

HGVS Amino-acid change
ENST00000381418.9:c.1915+20_1915+21del MANE Select ENSP00000370826.4:n.1915+20_1915+21del
ENST00000680789.1:c.1915+20_1915+21del ENSP00000505181.1:n.1915+20_1915+21del
ENST00000312841.9:c.1915+20_1915+21del ENSP00000326765.8:n.1915+20_1915+21del
ENST00000381418.8:c.1915+20_1915+21del ENSP00000370826.4:n.1915+20_1915+21del
NM_005144.4:c.1915+20_1915+21del NP_005135.2:n.1915+20_1915+21del
NM_018411.4:c.1915+20_1915+21del NP_060881.2:n.1915+20_1915+21del
XM_005273569.1:c.1918+20_1918+21del XP_005273626.1:n.1918+20_1918+21del
XM_006716367.1:c.1918+20_1918+21del XP_006716430.1:n.1918+20_1918+21del
XM_005273569.2:c.1918+20_1918+21del XP_005273626.1:n.1918+20_1918+21del
XM_006716367.2:c.1918+20_1918+21del XP_006716430.1:n.1918+20_1918+21del
NM_005144.5:c.1915+20_1915+21del MANE Select NP_005135.2:n.1915+20_1915+21del
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