Canonical Allele Identifier: CA2686428769

Gene: HR

Linked Data

• gnomAD v4: 8-22116407-CTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116408_22116410del , CM000670.2:g.22116408_22116410del	GRCh38
NC_000008.10:g.21973921_21973923del , CM000670.1:g.21973921_21973923del	GRCh37
NC_000008.9:g.22029866_22029868del	NCBI36
NG_008166.1:g.19108_19110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3397_3399del MANE Select	ENSP00000370826.4:p.Thr1133del
ENST00000680789.1:c.3397_3399del	ENSP00000505181.1:p.Thr1133del
ENST00000312841.9:c.3232_3234del	ENSP00000326765.8:p.Thr1078del
ENST00000381418.8:c.3397_3399del	ENSP00000370826.4:p.Thr1133del
ENST00000522016.1:n.1590_1592del
NM_005144.4:c.3397_3399del	NP_005135.2:p.Thr1133del
NM_018411.4:c.3232_3234del	NP_060881.2:p.Thr1078del
XM_005273569.1:c.3400_3402del	XP_005273626.1:p.Thr1134del
XM_006716367.1:c.3235_3237del	XP_006716430.1:p.Thr1079del
XM_005273569.2:c.3400_3402del	XP_005273626.1:p.Thr1134del
XM_006716367.2:c.3235_3237del	XP_006716430.1:p.Thr1079del
NM_005144.5:c.3397_3399del MANE Select	NP_005135.2:p.Thr1133del