Canonical Allele Identifier: CA849872220

Gene: HR

Linked Data

• dbSNP Id: rs1456426077
• gnomAD v4: 8-22116541-CAGAG-C
• MyVariant Identifiers: chr8:g.21974055_21974058del (hg19) ; chr8:g.22116542_22116545del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116544_22116547del , CM000670.2:g.22116544_22116547del	GRCh38
NC_000008.10:g.21974057_21974060del , CM000670.1:g.21974057_21974060del	GRCh37
NC_000008.9:g.22030002_22030005del	NCBI36
NG_008166.1:g.18973_18976del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3379-117_3379-114del MANE Select	ENSP00000370826.4:n.3379-117_3379-114del
ENST00000680789.1:c.3379-117_3379-114del	ENSP00000505181.1:n.3379-117_3379-114del
ENST00000312841.9:c.3214-117_3214-114del	ENSP00000326765.8:n.3214-117_3214-114del
ENST00000381418.8:c.3379-117_3379-114del	ENSP00000370826.4:n.3379-117_3379-114del
ENST00000522016.1:n.1572-117_1572-114del
NM_005144.4:c.3379-117_3379-114del	NP_005135.2:n.3379-117_3379-114del
NM_018411.4:c.3214-117_3214-114del	NP_060881.2:n.3214-117_3214-114del
XM_005273569.1:c.3382-117_3382-114del	XP_005273626.1:n.3382-117_3382-114del
XM_006716367.1:c.3217-117_3217-114del	XP_006716430.1:n.3217-117_3217-114del
XM_005273569.2:c.3382-117_3382-114del	XP_005273626.1:n.3382-117_3382-114del
XM_006716367.2:c.3217-117_3217-114del	XP_006716430.1:n.3217-117_3217-114del
NM_005144.5:c.3379-117_3379-114del MANE Select	NP_005135.2:n.3379-117_3379-114del