Canonical Allele Identifier: CA1770267242
Gene: HR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22123617_22123619delinsTCC , CM000670.2:g.22123617_22123619delinsTCC GRCh38
NC_000008.10:g.21981130_21981132delinsTCC , CM000670.1:g.21981130_21981132delinsTCC GRCh37
NC_000008.9:g.22037075_22037077delinsTCC NCBI36
NG_008166.1:g.11899_11901delinsGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000381418.9:c.1915+30_1915+32delinsGGA MANE Select ENSP00000370826.4:n.1915+30_1915+32delinsGGA
ENST00000680789.1:c.1915+30_1915+32delinsGGA ENSP00000505181.1:n.1915+30_1915+32delinsGGA
ENST00000312841.9:c.1915+30_1915+32delinsGGA ENSP00000326765.8:n.1915+30_1915+32delinsGGA
ENST00000381418.8:c.1915+30_1915+32delinsGGA ENSP00000370826.4:n.1915+30_1915+32delinsGGA
NM_005144.4:c.1915+30_1915+32delinsGGA NP_005135.2:n.1915+30_1915+32delinsGGA
NM_018411.4:c.1915+30_1915+32delinsGGA NP_060881.2:n.1915+30_1915+32delinsGGA
XM_005273569.1:c.1918+30_1918+32delinsGGA XP_005273626.1:n.1918+30_1918+32delinsGGA
XM_006716367.1:c.1918+30_1918+32delinsGGA XP_006716430.1:n.1918+30_1918+32delinsGGA
XM_005273569.2:c.1918+30_1918+32delinsGGA XP_005273626.1:n.1918+30_1918+32delinsGGA
XM_006716367.2:c.1918+30_1918+32delinsGGA XP_006716430.1:n.1918+30_1918+32delinsGGA
NM_005144.5:c.1915+30_1915+32delinsGGA MANE Select NP_005135.2:n.1915+30_1915+32delinsGGA