Canonical Allele Identifier: CA1770254749

Gene: HR

Linked Data

• dbSNP Id: rs1826591172
• gnomAD v4: 8-22116503-GCTTCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116506_22116511del , CM000670.2:g.22116506_22116511del	GRCh38
NC_000008.10:g.21974019_21974024del , CM000670.1:g.21974019_21974024del	GRCh37
NC_000008.9:g.22029964_22029969del	NCBI36
NG_008166.1:g.19009_19014del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3379-81_3379-76del MANE Select	ENSP00000370826.4:n.3379-81_3379-76del
ENST00000680789.1:c.3379-81_3379-76del	ENSP00000505181.1:n.3379-81_3379-76del
ENST00000312841.9:c.3214-81_3214-76del	ENSP00000326765.8:n.3214-81_3214-76del
ENST00000381418.8:c.3379-81_3379-76del	ENSP00000370826.4:n.3379-81_3379-76del
ENST00000522016.1:n.1572-81_1572-76del
NM_005144.4:c.3379-81_3379-76del	NP_005135.2:n.3379-81_3379-76del
NM_018411.4:c.3214-81_3214-76del	NP_060881.2:n.3214-81_3214-76del
XM_005273569.1:c.3382-81_3382-76del	XP_005273626.1:n.3382-81_3382-76del
XM_006716367.1:c.3217-81_3217-76del	XP_006716430.1:n.3217-81_3217-76del
XM_005273569.2:c.3382-81_3382-76del	XP_005273626.1:n.3382-81_3382-76del
XM_006716367.2:c.3217-81_3217-76del	XP_006716430.1:n.3217-81_3217-76del
NM_005144.5:c.3379-81_3379-76del MANE Select	NP_005135.2:n.3379-81_3379-76del