Canonical Allele Identifier: CA1770254137
Gene: HR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22116192_22116214delinsCTGCCTGCTTGGCACAGGGTGGG , CM000670.2:g.22116192_22116214delinsCTGCCTGCTTGGCACAGGGTGGG GRCh38
NC_000008.10:g.21973705_21973727delinsCTGCCTGCTTGGCACAGGGTGGG , CM000670.1:g.21973705_21973727delinsCTGCCTGCTTGGCACAGGGTGGG GRCh37
NC_000008.9:g.22029650_22029672delinsCTGCCTGCTTGGCACAGGGTGGG NCBI36
NG_008166.1:g.19304_19326delinsCCCACCCTGTGCCAAGCAGGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000381418.9:c.3507+86_3507+108delinsCCCACCCTGTGCCAAGCAGGCAG MANE Select ENSP00000370826.4:n.3507+86_3507+108delinsCCCACCCTGTGCCAAGCAG...
ENST00000680789.1:c.3507+86_3507+108delinsCCCACCCTGTGCCAAGCAGGCAG ENSP00000505181.1:n.3507+86_3507+108delinsCCCACCCTGTGCCAAGCAG...
ENST00000312841.9:c.3342+86_3342+108delinsCCCACCCTGTGCCAAGCAGGCAG ENSP00000326765.8:n.3342+86_3342+108delinsCCCACCCTGTGCCAAGCAG...
ENST00000381418.8:c.3507+86_3507+108delinsCCCACCCTGTGCCAAGCAGGCAG ENSP00000370826.4:n.3507+86_3507+108delinsCCCACCCTGTGCCAAGCAG...
ENST00000522016.1:n.1700+86_1700+108delinsCCCACCCTGTGCCAAGCAGGCAG
NM_005144.4:c.3507+86_3507+108delinsCCCACCCTGTGCCAAGCAGGCAG NP_005135.2:n.3507+86_3507+108delinsCCCACCCTGTGCCAAGCAGGCAG
NM_018411.4:c.3342+86_3342+108delinsCCCACCCTGTGCCAAGCAGGCAG NP_060881.2:n.3342+86_3342+108delinsCCCACCCTGTGCCAAGCAGGCAG
XM_005273569.1:c.3510+86_3510+108delinsCCCACCCTGTGCCAAGCAGGCAG XP_005273626.1:n.3510+86_3510+108delinsCCCACCCTGTGCCAAGCAGGCA...
XM_006716367.1:c.3345+86_3345+108delinsCCCACCCTGTGCCAAGCAGGCAG XP_006716430.1:n.3345+86_3345+108delinsCCCACCCTGTGCCAAGCAGGCA...
XM_005273569.2:c.3510+86_3510+108delinsCCCACCCTGTGCCAAGCAGGCAG XP_005273626.1:n.3510+86_3510+108delinsCCCACCCTGTGCCAAGCAGGCA...
XM_006716367.2:c.3345+86_3345+108delinsCCCACCCTGTGCCAAGCAGGCAG XP_006716430.1:n.3345+86_3345+108delinsCCCACCCTGTGCCAAGCAGGCA...
NM_005144.5:c.3507+86_3507+108delinsCCCACCCTGTGCCAAGCAGGCAG MANE Select NP_005135.2:n.3507+86_3507+108delinsCCCACCCTGTGCCAAGCAGGCAG