Canonical Allele Identifier: CA1770254835

Gene: HR

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116541_22116545delinsCAGAG , CM000670.2:g.22116541_22116545delinsCAGAG	GRCh38
NC_000008.10:g.21974054_21974058delinsCAGAG , CM000670.1:g.21974054_21974058delinsCAGAG	GRCh37
NC_000008.9:g.22029999_22030003delinsCAGAG	NCBI36
NG_008166.1:g.18973_18977delinsCTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3379-117_3379-113delinsCTCTG MANE Select	ENSP00000370826.4:n.3379-117_3379-113delinsCTCTG
ENST00000680789.1:c.3379-117_3379-113delinsCTCTG	ENSP00000505181.1:n.3379-117_3379-113delinsCTCTG
ENST00000312841.9:c.3214-117_3214-113delinsCTCTG	ENSP00000326765.8:n.3214-117_3214-113delinsCTCTG
ENST00000381418.8:c.3379-117_3379-113delinsCTCTG	ENSP00000370826.4:n.3379-117_3379-113delinsCTCTG
ENST00000522016.1:n.1572-117_1572-113delinsCTCTG
NM_005144.4:c.3379-117_3379-113delinsCTCTG	NP_005135.2:n.3379-117_3379-113delinsCTCTG
NM_018411.4:c.3214-117_3214-113delinsCTCTG	NP_060881.2:n.3214-117_3214-113delinsCTCTG
XM_005273569.1:c.3382-117_3382-113delinsCTCTG	XP_005273626.1:n.3382-117_3382-113delinsCTCTG
XM_006716367.1:c.3217-117_3217-113delinsCTCTG	XP_006716430.1:n.3217-117_3217-113delinsCTCTG
XM_005273569.2:c.3382-117_3382-113delinsCTCTG	XP_005273626.1:n.3382-117_3382-113delinsCTCTG
XM_006716367.2:c.3217-117_3217-113delinsCTCTG	XP_006716430.1:n.3217-117_3217-113delinsCTCTG
NM_005144.5:c.3379-117_3379-113delinsCTCTG MANE Select	NP_005135.2:n.3379-117_3379-113delinsCTCTG