Canonical Allele Identifier: CA1770254233

Gene: HR

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116257_22116258delinsGC , CM000670.2:g.22116257_22116258delinsGC	GRCh38
NC_000008.10:g.21973770_21973771delinsGC , CM000670.1:g.21973770_21973771delinsGC	GRCh37
NC_000008.9:g.22029715_22029716delinsGC	NCBI36
NG_008166.1:g.19260_19261delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3507+42_3507+43delinsGC MANE Select	ENSP00000370826.4:n.3507+42_3507+43delinsGC
ENST00000680789.1:c.3507+42_3507+43delinsGC	ENSP00000505181.1:n.3507+42_3507+43delinsGC
ENST00000312841.9:c.3342+42_3342+43delinsGC	ENSP00000326765.8:n.3342+42_3342+43delinsGC
ENST00000381418.8:c.3507+42_3507+43delinsGC	ENSP00000370826.4:n.3507+42_3507+43delinsGC
ENST00000522016.1:n.1700+42_1700+43delinsGC
NM_005144.4:c.3507+42_3507+43delinsGC	NP_005135.2:n.3507+42_3507+43delinsGC
NM_018411.4:c.3342+42_3342+43delinsGC	NP_060881.2:n.3342+42_3342+43delinsGC
XM_005273569.1:c.3510+42_3510+43delinsGC	XP_005273626.1:n.3510+42_3510+43delinsGC
XM_006716367.1:c.3345+42_3345+43delinsGC	XP_006716430.1:n.3345+42_3345+43delinsGC
XM_005273569.2:c.3510+42_3510+43delinsGC	XP_005273626.1:n.3510+42_3510+43delinsGC
XM_006716367.2:c.3345+42_3345+43delinsGC	XP_006716430.1:n.3345+42_3345+43delinsGC
NM_005144.5:c.3507+42_3507+43delinsGC MANE Select	NP_005135.2:n.3507+42_3507+43delinsGC