Canonical Allele Identifier: CA1770254277
Gene: HR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22116279_22116281delinsGCT , CM000670.2:g.22116279_22116281delinsGCT GRCh38
NC_000008.10:g.21973792_21973794delinsGCT , CM000670.1:g.21973792_21973794delinsGCT GRCh37
NC_000008.9:g.22029737_22029739delinsGCT NCBI36
NG_008166.1:g.19237_19239delinsAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000381418.9:c.3507+19_3507+21delinsAGC MANE Select ENSP00000370826.4:n.3507+19_3507+21delinsAGC
ENST00000680789.1:c.3507+19_3507+21delinsAGC ENSP00000505181.1:n.3507+19_3507+21delinsAGC
ENST00000312841.9:c.3342+19_3342+21delinsAGC ENSP00000326765.8:n.3342+19_3342+21delinsAGC
ENST00000381418.8:c.3507+19_3507+21delinsAGC ENSP00000370826.4:n.3507+19_3507+21delinsAGC
ENST00000522016.1:n.1700+19_1700+21delinsAGC
NM_005144.4:c.3507+19_3507+21delinsAGC NP_005135.2:n.3507+19_3507+21delinsAGC
NM_018411.4:c.3342+19_3342+21delinsAGC NP_060881.2:n.3342+19_3342+21delinsAGC
XM_005273569.1:c.3510+19_3510+21delinsAGC XP_005273626.1:n.3510+19_3510+21delinsAGC
XM_006716367.1:c.3345+19_3345+21delinsAGC XP_006716430.1:n.3345+19_3345+21delinsAGC
XM_005273569.2:c.3510+19_3510+21delinsAGC XP_005273626.1:n.3510+19_3510+21delinsAGC
XM_006716367.2:c.3345+19_3345+21delinsAGC XP_006716430.1:n.3345+19_3345+21delinsAGC
NM_005144.5:c.3507+19_3507+21delinsAGC MANE Select NP_005135.2:n.3507+19_3507+21delinsAGC