Canonical Allele Identifier: CA1111736024

Gene: HR

Linked Data

• gnomAD v3: 8-22116533-CTGG-C
• gnomAD v4: 8-22116533-CTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116534_22116536del , CM000670.2:g.22116534_22116536del	GRCh38
NC_000008.10:g.21974047_21974049del , CM000670.1:g.21974047_21974049del	GRCh37
NC_000008.9:g.22029992_22029994del	NCBI36
NG_008166.1:g.18982_18984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3379-108_3379-106del MANE Select	ENSP00000370826.4:n.3379-108_3379-106del
ENST00000680789.1:c.3379-108_3379-106del	ENSP00000505181.1:n.3379-108_3379-106del
ENST00000312841.9:c.3214-108_3214-106del	ENSP00000326765.8:n.3214-108_3214-106del
ENST00000381418.8:c.3379-108_3379-106del	ENSP00000370826.4:n.3379-108_3379-106del
ENST00000522016.1:n.1572-108_1572-106del
NM_005144.4:c.3379-108_3379-106del	NP_005135.2:n.3379-108_3379-106del
NM_018411.4:c.3214-108_3214-106del	NP_060881.2:n.3214-108_3214-106del
XM_005273569.1:c.3382-108_3382-106del	XP_005273626.1:n.3382-108_3382-106del
XM_006716367.1:c.3217-108_3217-106del	XP_006716430.1:n.3217-108_3217-106del
XM_005273569.2:c.3382-108_3382-106del	XP_005273626.1:n.3382-108_3382-106del
XM_006716367.2:c.3217-108_3217-106del	XP_006716430.1:n.3217-108_3217-106del
NM_005144.5:c.3379-108_3379-106del MANE Select	NP_005135.2:n.3379-108_3379-106del