Canonical Allele Identifier: CA1111736052

Gene: HR

Linked Data

• dbSNP Id: rs1826594380
• gnomAD v3: 8-22116613-G-GGA
• gnomAD v4: 8-22116613-G-GGA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116618_22116619dup , CM000670.2:g.22116618_22116619dup	GRCh38
NC_000008.10:g.21974131_21974132dup , CM000670.1:g.21974131_21974132dup	GRCh37
NC_000008.9:g.22030076_22030077dup	NCBI36
NG_008166.1:g.18903_18904dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3379-187_3379-186dup MANE Select	ENSP00000370826.4:n.3379-187_3379-186dup
ENST00000680789.1:c.3379-187_3379-186dup	ENSP00000505181.1:n.3379-187_3379-186dup
ENST00000312841.9:c.3214-187_3214-186dup	ENSP00000326765.8:n.3214-187_3214-186dup
ENST00000381418.8:c.3379-187_3379-186dup	ENSP00000370826.4:n.3379-187_3379-186dup
ENST00000522016.1:n.1572-187_1572-186dup
NM_005144.4:c.3379-187_3379-186dup	NP_005135.2:n.3379-187_3379-186dup
NM_018411.4:c.3214-187_3214-186dup	NP_060881.2:n.3214-187_3214-186dup
XM_005273569.1:c.3382-187_3382-186dup	XP_005273626.1:n.3382-187_3382-186dup
XM_006716367.1:c.3217-187_3217-186dup	XP_006716430.1:n.3217-187_3217-186dup
XM_005273569.2:c.3382-187_3382-186dup	XP_005273626.1:n.3382-187_3382-186dup
XM_006716367.2:c.3217-187_3217-186dup	XP_006716430.1:n.3217-187_3217-186dup
NM_005144.5:c.3379-187_3379-186dup MANE Select	NP_005135.2:n.3379-187_3379-186dup