Canonical Allele Identifier: CA2695208965

Gene: HR

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123724_22123726del , CM000670.2:g.22123724_22123726del	GRCh38
NC_000008.10:g.21981237_21981239del , CM000670.1:g.21981237_21981239del	GRCh37
NC_000008.9:g.22037182_22037184del	NCBI36
NG_008166.1:g.11793_11795del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.1839_1841del MANE Select	ENSP00000370826.4:p.Cys614del
ENST00000680789.1:c.1839_1841del	ENSP00000505181.1:p.Cys614del
ENST00000312841.9:c.1839_1841del	ENSP00000326765.8:p.Cys614del
ENST00000381418.8:c.1839_1841del	ENSP00000370826.4:p.Cys614del
NM_005144.4:c.1839_1841del	NP_005135.2:p.Cys614del
NM_018411.4:c.1839_1841del	NP_060881.2:p.Cys614del
XM_005273569.1:c.1842_1844del	XP_005273626.1:p.Cys615del
XM_006716367.1:c.1842_1844del	XP_006716430.1:p.Cys615del
XM_005273569.2:c.1842_1844del	XP_005273626.1:p.Cys615del
XM_006716367.2:c.1842_1844del	XP_006716430.1:p.Cys615del
NM_005144.5:c.1839_1841del MANE Select	NP_005135.2:p.Cys614del