Canonical Allele Identifier: CA2686429303

Gene: HR

Linked Data

• gnomAD v4: 8-22116567-C-CAGGCTTTGAGGTGTCCAGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116567_22116568insAGGCTTTGAGGTGTCCAGTGG , CM000670.2:g.22116567_22116568insAGGCTTTGAGGTGTCCAGTGG	GRCh38
NC_000008.10:g.21974080_21974081insAGGCTTTGAGGTGTCCAGTGG , CM000670.1:g.21974080_21974081insAGGCTTTGAGGTGTCCAGTGG	GRCh37
NC_000008.9:g.22030025_22030026insAGGCTTTGAGGTGTCCAGTGG	NCBI36
NG_008166.1:g.18950_18951insCCACTGGACACCTCAAAGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3379-140_3379-139insCCACTGGACACCTCAAAGCCT MANE Select	ENSP00000370826.4:n.3379-140_3379-139insCCACTGGACACCTCAAAGCCT...
ENST00000680789.1:c.3379-140_3379-139insCCACTGGACACCTCAAAGCCT	ENSP00000505181.1:n.3379-140_3379-139insCCACTGGACACCTCAAAGCCT...
ENST00000312841.9:c.3214-140_3214-139insCCACTGGACACCTCAAAGCCT	ENSP00000326765.8:n.3214-140_3214-139insCCACTGGACACCTCAAAGCCT...
ENST00000381418.8:c.3379-140_3379-139insCCACTGGACACCTCAAAGCCT	ENSP00000370826.4:n.3379-140_3379-139insCCACTGGACACCTCAAAGCCT...
ENST00000522016.1:n.1572-140_1572-139insCCACTGGACACCTCAAAGCCT
NM_005144.4:c.3379-140_3379-139insCCACTGGACACCTCAAAGCCT	NP_005135.2:n.3379-140_3379-139insCCACTGGACACCTCAAAGCCT
NM_018411.4:c.3214-140_3214-139insCCACTGGACACCTCAAAGCCT	NP_060881.2:n.3214-140_3214-139insCCACTGGACACCTCAAAGCCT
XM_005273569.1:c.3382-140_3382-139insCCACTGGACACCTCAAAGCCT	XP_005273626.1:n.3382-140_3382-139insCCACTGGACACCTCAAAGCCT
XM_006716367.1:c.3217-140_3217-139insCCACTGGACACCTCAAAGCCT	XP_006716430.1:n.3217-140_3217-139insCCACTGGACACCTCAAAGCCT
XM_005273569.2:c.3382-140_3382-139insCCACTGGACACCTCAAAGCCT	XP_005273626.1:n.3382-140_3382-139insCCACTGGACACCTCAAAGCCT
XM_006716367.2:c.3217-140_3217-139insCCACTGGACACCTCAAAGCCT	XP_006716430.1:n.3217-140_3217-139insCCACTGGACACCTCAAAGCCT
NM_005144.5:c.3379-140_3379-139insCCACTGGACACCTCAAAGCCT MANE Select	NP_005135.2:n.3379-140_3379-139insCCACTGGACACCTCAAAGCCT