Canonical Allele Identifier: CA2686426517
Gene: HR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22123617_22123622del , CM000670.2:g.22123617_22123622del GRCh38
NC_000008.10:g.21981130_21981135del , CM000670.1:g.21981130_21981135del GRCh37
NC_000008.9:g.22037075_22037080del NCBI36
NG_008166.1:g.11896_11901del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381418.9:c.1915+27_1915+32del MANE Select ENSP00000370826.4:n.1915+27_1915+32del
ENST00000680789.1:c.1915+27_1915+32del ENSP00000505181.1:n.1915+27_1915+32del
ENST00000312841.9:c.1915+27_1915+32del ENSP00000326765.8:n.1915+27_1915+32del
ENST00000381418.8:c.1915+27_1915+32del ENSP00000370826.4:n.1915+27_1915+32del
NM_005144.4:c.1915+27_1915+32del NP_005135.2:n.1915+27_1915+32del
NM_018411.4:c.1915+27_1915+32del NP_060881.2:n.1915+27_1915+32del
XM_005273569.1:c.1918+27_1918+32del XP_005273626.1:n.1918+27_1918+32del
XM_006716367.1:c.1918+27_1918+32del XP_006716430.1:n.1918+27_1918+32del
XM_005273569.2:c.1918+27_1918+32del XP_005273626.1:n.1918+27_1918+32del
XM_006716367.2:c.1918+27_1918+32del XP_006716430.1:n.1918+27_1918+32del
NM_005144.5:c.1915+27_1915+32del MANE Select NP_005135.2:n.1915+27_1915+32del