Canonical Allele Identifier: CA1770267917

Gene: HR

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123701_22123703delinsCAG , CM000670.2:g.22123701_22123703delinsCAG	GRCh38
NC_000008.10:g.21981214_21981216delinsCAG , CM000670.1:g.21981214_21981216delinsCAG	GRCh37
NC_000008.9:g.22037159_22037161delinsCAG	NCBI36
NG_008166.1:g.11815_11817delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.1861_1863delinsCTG MANE Select	ENSP00000370826.4:p.Leu621=
ENST00000680789.1:c.1861_1863delinsCTG	ENSP00000505181.1:p.Leu621=
ENST00000312841.9:c.1861_1863delinsCTG	ENSP00000326765.8:p.Leu621=
ENST00000381418.8:c.1861_1863delinsCTG	ENSP00000370826.4:p.Leu621=
NM_005144.4:c.1861_1863delinsCTG	NP_005135.2:p.Leu621=
NM_018411.4:c.1861_1863delinsCTG	NP_060881.2:p.Leu621=
XM_005273569.1:c.1864_1866delinsCTG	XP_005273626.1:p.Leu622=
XM_006716367.1:c.1864_1866delinsCTG	XP_006716430.1:p.Leu622=
XM_005273569.2:c.1864_1866delinsCTG	XP_005273626.1:p.Leu622=
XM_006716367.2:c.1864_1866delinsCTG	XP_006716430.1:p.Leu622=
NM_005144.5:c.1861_1863delinsCTG MANE Select	NP_005135.2:p.Leu621=