Canonical Allele Identifier: CA1770254248

Gene: HR

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116270_22116272delinsACC , CM000670.2:g.22116270_22116272delinsACC	GRCh38
NC_000008.10:g.21973783_21973785delinsACC , CM000670.1:g.21973783_21973785delinsACC	GRCh37
NC_000008.9:g.22029728_22029730delinsACC	NCBI36
NG_008166.1:g.19246_19248delinsGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3507+28_3507+30delinsGGT MANE Select	ENSP00000370826.4:n.3507+28_3507+30delinsGGT
ENST00000680789.1:c.3507+28_3507+30delinsGGT	ENSP00000505181.1:n.3507+28_3507+30delinsGGT
ENST00000312841.9:c.3342+28_3342+30delinsGGT	ENSP00000326765.8:n.3342+28_3342+30delinsGGT
ENST00000381418.8:c.3507+28_3507+30delinsGGT	ENSP00000370826.4:n.3507+28_3507+30delinsGGT
ENST00000522016.1:n.1700+28_1700+30delinsGGT
NM_005144.4:c.3507+28_3507+30delinsGGT	NP_005135.2:n.3507+28_3507+30delinsGGT
NM_018411.4:c.3342+28_3342+30delinsGGT	NP_060881.2:n.3342+28_3342+30delinsGGT
XM_005273569.1:c.3510+28_3510+30delinsGGT	XP_005273626.1:n.3510+28_3510+30delinsGGT
XM_006716367.1:c.3345+28_3345+30delinsGGT	XP_006716430.1:n.3345+28_3345+30delinsGGT
XM_005273569.2:c.3510+28_3510+30delinsGGT	XP_005273626.1:n.3510+28_3510+30delinsGGT
XM_006716367.2:c.3345+28_3345+30delinsGGT	XP_006716430.1:n.3345+28_3345+30delinsGGT
NM_005144.5:c.3507+28_3507+30delinsGGT MANE Select	NP_005135.2:n.3507+28_3507+30delinsGGT