Canonical Allele Identifier: CA1111735941

Gene: HR

Linked Data

• dbSNP Id: rs1826591503
• gnomAD v3: 8-22116510-CTAA-C
• gnomAD v4: 8-22116510-CTAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116512_22116514del , CM000670.2:g.22116512_22116514del	GRCh38
NC_000008.10:g.21974025_21974027del , CM000670.1:g.21974025_21974027del	GRCh37
NC_000008.9:g.22029970_22029972del	NCBI36
NG_008166.1:g.19005_19007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3379-85_3379-83del MANE Select	ENSP00000370826.4:n.3379-85_3379-83del
ENST00000680789.1:c.3379-85_3379-83del	ENSP00000505181.1:n.3379-85_3379-83del
ENST00000312841.9:c.3214-85_3214-83del	ENSP00000326765.8:n.3214-85_3214-83del
ENST00000381418.8:c.3379-85_3379-83del	ENSP00000370826.4:n.3379-85_3379-83del
ENST00000522016.1:n.1572-85_1572-83del
NM_005144.4:c.3379-85_3379-83del	NP_005135.2:n.3379-85_3379-83del
NM_018411.4:c.3214-85_3214-83del	NP_060881.2:n.3214-85_3214-83del
XM_005273569.1:c.3382-85_3382-83del	XP_005273626.1:n.3382-85_3382-83del
XM_006716367.1:c.3217-85_3217-83del	XP_006716430.1:n.3217-85_3217-83del
XM_005273569.2:c.3382-85_3382-83del	XP_005273626.1:n.3382-85_3382-83del
XM_006716367.2:c.3217-85_3217-83del	XP_006716430.1:n.3217-85_3217-83del
NM_005144.5:c.3379-85_3379-83del MANE Select	NP_005135.2:n.3379-85_3379-83del