Canonical Allele Identifier: CA2499219207

Gene: HR

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22121673del , CM000670.2:g.22121673del	GRCh38
NC_000008.10:g.21979186del , CM000670.1:g.21979186del	GRCh37
NC_000008.9:g.22035131del	NCBI36
NG_008166.1:g.13849del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.2147del MANE Select	ENSP00000370826.4:p.Pro716GlnfsTer?
ENST00000680789.1:c.2147del	ENSP00000505181.1:p.Pro716GlnfsTer?
ENST00000312841.9:c.2147del	ENSP00000326765.8:p.Pro716GlnfsTer?
ENST00000381418.8:c.2147del	ENSP00000370826.4:p.Pro716GlnfsTer?
ENST00000517699.2:c.88del
ENST00000518461.2:n.224del
NM_005144.4:c.2147del	NP_005135.2:p.Pro716GlnfsTer?
NM_018411.4:c.2147del	NP_060881.2:p.Pro716GlnfsTer?
XM_005273569.1:c.2150del	XP_005273626.1:p.Pro717GlnfsTer?
XM_006716367.1:c.2150del	XP_006716430.1:p.Pro717GlnfsTer?
XM_005273569.2:c.2150del	XP_005273626.1:p.Pro717GlnfsTer?
XM_006716367.2:c.2150del	XP_006716430.1:p.Pro717GlnfsTer?
NM_005144.5:c.2147del MANE Select	NP_005135.2:p.Pro716GlnfsTer?