Canonical Allele Identifier: CA2594530069

Gene: HR

Linked Data

• dbSNP Id: rs2131748362
• gnomAD v3: 8-22116134-CAAAA-C
• gnomAD v4: 8-22116134-CAAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116137_22116140del , CM000670.2:g.22116137_22116140del	GRCh38
NC_000008.10:g.21973650_21973653del , CM000670.1:g.21973650_21973653del	GRCh37
NC_000008.9:g.22029595_22029598del	NCBI36
NG_008166.1:g.19380_19383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3507+162_3507+165del MANE Select	ENSP00000370826.4:n.3507+162_3507+165del
ENST00000680789.1:c.3507+162_3507+165del	ENSP00000505181.1:n.3507+162_3507+165del
ENST00000312841.9:c.3342+162_3342+165del	ENSP00000326765.8:n.3342+162_3342+165del
ENST00000381418.8:c.3507+162_3507+165del	ENSP00000370826.4:n.3507+162_3507+165del
ENST00000522016.1:n.1700+162_1700+165del
NM_005144.4:c.3507+162_3507+165del	NP_005135.2:n.3507+162_3507+165del
NM_018411.4:c.3342+162_3342+165del	NP_060881.2:n.3342+162_3342+165del
XM_005273569.1:c.3510+162_3510+165del	XP_005273626.1:n.3510+162_3510+165del
XM_006716367.1:c.3345+162_3345+165del	XP_006716430.1:n.3345+162_3345+165del
XM_005273569.2:c.3510+162_3510+165del	XP_005273626.1:n.3510+162_3510+165del
XM_006716367.2:c.3345+162_3345+165del	XP_006716430.1:n.3345+162_3345+165del
NM_005144.5:c.3507+162_3507+165del MANE Select	NP_005135.2:n.3507+162_3507+165del