Canonical Allele Identifier: CA2580078058
Gene: HR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22119891_22119892del , CM000670.2:g.22119891_22119892del GRCh38
NC_000008.10:g.21977404_21977405del , CM000670.1:g.21977404_21977405del GRCh37
NC_000008.9:g.22033349_22033350del NCBI36
NG_008166.1:g.15626_15627del

Transcript Alleles

HGVS Amino-acid Change
NM_005144.5:c.2847-2_2847-1del MANE Select NP_005135.2:n.2847-2_2847-1del
ENST00000381418.9:c.2847-2_2847-1del MANE Select ENSP00000370826.4:n.2847-2_2847-1del
NM_005144.4:c.2847-2_2847-1del NP_005135.2:n.2847-2_2847-1del
NM_018411.4:c.2847-2_2847-1del NP_060881.2:n.2847-2_2847-1del
ENST00000312841.9:c.2847-2_2847-1del ENSP00000326765.8:n.2847-2_2847-1del
ENST00000381418.8:c.2847-2_2847-1del ENSP00000370826.4:n.2847-2_2847-1del
ENST00000680789.1:c.2847-2_2847-1del ENSP00000505181.1:n.2847-2_2847-1del
XM_005273569.1:c.2850-2_2850-1del XP_005273626.1:n.2850-2_2850-1del
XM_005273569.2:c.2850-2_2850-1del XP_005273626.1:n.2850-2_2850-1del
XM_006716367.1:c.2850-2_2850-1del XP_006716430.1:n.2850-2_2850-1del
XM_006716367.2:c.2850-2_2850-1del XP_006716430.1:n.2850-2_2850-1del