Canonical Allele Identifier: CA2779361843
Gene: HR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22116527_22116528del , CM000670.2:g.22116527_22116528del GRCh38
NC_000008.10:g.21974040_21974041del , CM000670.1:g.21974040_21974041del GRCh37
NC_000008.9:g.22029985_22029986del NCBI36
NG_008166.1:g.18990_18991del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381418.9:c.3379-100_3379-99del MANE Select ENSP00000370826.4:n.3379-100_3379-99del
ENST00000680789.1:c.3379-100_3379-99del ENSP00000505181.1:n.3379-100_3379-99del
ENST00000312841.9:c.3214-100_3214-99del ENSP00000326765.8:n.3214-100_3214-99del
ENST00000381418.8:c.3379-100_3379-99del ENSP00000370826.4:n.3379-100_3379-99del
ENST00000522016.1:n.1572-100_1572-99del
NM_005144.4:c.3379-100_3379-99del NP_005135.2:n.3379-100_3379-99del
NM_018411.4:c.3214-100_3214-99del NP_060881.2:n.3214-100_3214-99del
XM_005273569.1:c.3382-100_3382-99del XP_005273626.1:n.3382-100_3382-99del
XM_006716367.1:c.3217-100_3217-99del XP_006716430.1:n.3217-100_3217-99del
XM_005273569.2:c.3382-100_3382-99del XP_005273626.1:n.3382-100_3382-99del
XM_006716367.2:c.3217-100_3217-99del XP_006716430.1:n.3217-100_3217-99del
NM_005144.5:c.3379-100_3379-99del MANE Select NP_005135.2:n.3379-100_3379-99del