Canonical Allele Identifier: CA2686436762

Gene: HR

Linked Data

• gnomAD v4: 8-22123626-CCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123629_22123631del , CM000670.2:g.22123629_22123631del	GRCh38
NC_000008.10:g.21981142_21981144del , CM000670.1:g.21981142_21981144del	GRCh37
NC_000008.9:g.22037087_22037089del	NCBI36
NG_008166.1:g.11889_11891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.1915+20_1915+22del MANE Select	ENSP00000370826.4:n.1915+20_1915+22del
ENST00000680789.1:c.1915+20_1915+22del	ENSP00000505181.1:n.1915+20_1915+22del
ENST00000312841.9:c.1915+20_1915+22del	ENSP00000326765.8:n.1915+20_1915+22del
ENST00000381418.8:c.1915+20_1915+22del	ENSP00000370826.4:n.1915+20_1915+22del
NM_005144.4:c.1915+20_1915+22del	NP_005135.2:n.1915+20_1915+22del
NM_018411.4:c.1915+20_1915+22del	NP_060881.2:n.1915+20_1915+22del
XM_005273569.1:c.1918+20_1918+22del	XP_005273626.1:n.1918+20_1918+22del
XM_006716367.1:c.1918+20_1918+22del	XP_006716430.1:n.1918+20_1918+22del
XM_005273569.2:c.1918+20_1918+22del	XP_005273626.1:n.1918+20_1918+22del
XM_006716367.2:c.1918+20_1918+22del	XP_006716430.1:n.1918+20_1918+22del
NM_005144.5:c.1915+20_1915+22del MANE Select	NP_005135.2:n.1915+20_1915+22del