Canonical Allele Identifier: CA2686428749

Gene: HR

Linked Data

• gnomAD v4: 8-22116402-GCTGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116406_22116409del , CM000670.2:g.22116406_22116409del	GRCh38
NC_000008.10:g.21973919_21973922del , CM000670.1:g.21973919_21973922del	GRCh37
NC_000008.9:g.22029864_22029867del	NCBI36
NG_008166.1:g.19112_19115del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381418.9:c.3401_3404del MANE Select	ENSP00000370826.4:p.Val1134AlafsTer?
ENST00000680789.1:c.3401_3404del	ENSP00000505181.1:p.Val1134AlafsTer?
ENST00000312841.9:c.3236_3239del	ENSP00000326765.8:p.Val1079AlafsTer?
ENST00000381418.8:c.3401_3404del	ENSP00000370826.4:p.Val1134AlafsTer?
ENST00000522016.1:n.1594_1597del
NM_005144.4:c.3401_3404del	NP_005135.2:p.Val1134AlafsTer?
NM_018411.4:c.3236_3239del	NP_060881.2:p.Val1079AlafsTer?
XM_005273569.1:c.3404_3407del	XP_005273626.1:p.Val1135AlafsTer?
XM_006716367.1:c.3239_3242del	XP_006716430.1:p.Val1080AlafsTer?
XM_005273569.2:c.3404_3407del	XP_005273626.1:p.Val1135AlafsTer?
XM_006716367.2:c.3239_3242del	XP_006716430.1:p.Val1080AlafsTer?
NM_005144.5:c.3401_3404del MANE Select	NP_005135.2:p.Val1134AlafsTer?