Canonical Allele Identifier: CA2686428302

Gene: HR

Linked Data

• gnomAD v4: 8-22116180-TGCACAGGGTGGCTGCCTGCTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116192_22116213del , CM000670.2:g.22116192_22116213del	GRCh38
NC_000008.10:g.21973705_21973726del , CM000670.1:g.21973705_21973726del	GRCh37
NC_000008.9:g.22029650_22029671del	NCBI36
NG_008166.1:g.19316_19337del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3507+98_3507+119del MANE Select	ENSP00000370826.4:n.3507+98_3507+119del
ENST00000680789.1:c.3507+98_3507+119del	ENSP00000505181.1:n.3507+98_3507+119del
ENST00000312841.9:c.3342+98_3342+119del	ENSP00000326765.8:n.3342+98_3342+119del
ENST00000381418.8:c.3507+98_3507+119del	ENSP00000370826.4:n.3507+98_3507+119del
ENST00000522016.1:n.1700+98_1700+119del
NM_005144.4:c.3507+98_3507+119del	NP_005135.2:n.3507+98_3507+119del
NM_018411.4:c.3342+98_3342+119del	NP_060881.2:n.3342+98_3342+119del
XM_005273569.1:c.3510+98_3510+119del	XP_005273626.1:n.3510+98_3510+119del
XM_006716367.1:c.3345+98_3345+119del	XP_006716430.1:n.3345+98_3345+119del
XM_005273569.2:c.3510+98_3510+119del	XP_005273626.1:n.3510+98_3510+119del
XM_006716367.2:c.3345+98_3345+119del	XP_006716430.1:n.3345+98_3345+119del
NM_005144.5:c.3507+98_3507+119del MANE Select	NP_005135.2:n.3507+98_3507+119del