Canonical Allele Identifier: CA913188004

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2088079
• ClinVar RCV Id: RCV003009887

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780739_214780740delinsCG , CM000664.2:g.214780739_214780740delinsCG	GRCh38
NC_000002.11:g.215645463_215645464delinsCG , CM000664.1:g.215645463_215645464delinsCG	GRCh37
NC_000002.10:g.215353708_215353709delinsCG	NCBI36
NG_012047.2:g.33965_33966delinsCG
NG_012047.3:g.33972_33973delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1134_1135delinsCG MANE Select	ENSP00000260947.4:p.Arg378_Lys379delinsSerGlu
ENST00000421162.2:c.215+16321_215+16322delinsCG	ENSP00000392245.2:n.215+16321_215+16322delinsCG
ENST00000613192.2:c.158+28672_158+28673delinsCG	ENSP00000483275.2:n.158+28672_158+28673delinsCG
ENST00000613374.5:c.159-28185_159-28184delinsCG	ENSP00000484464.1:n.159-28185_159-28184delinsCG
ENST00000613706.5:c.906+228_906+229delinsCG	ENSP00000484976.2:n.906+228_906+229delinsCG
ENST00000617164.5:c.1077_1078delinsCG	ENSP00000480470.1:p.Arg359_Lys360delinsSerGlu
ENST00000619009.5:c.364+11557_364+11558delinsCG	ENSP00000482293.1:n.364+11557_364+11558delinsCG
ENST00000650978.1:c.976_977delinsCG
ENST00000260947.8:c.1134_1135delinsCG	ENSP00000260947.4:p.Arg378_Lys379delinsSerGlu
ENST00000421162.1:c.215+16321_215+16322delinsCG	ENSP00000392245.1:n.215+16321_215+16322delinsCG
ENST00000455743.5:c.*754_*755delinsCG	ENSP00000412186.1:n.*754_*755delinsCG
ENST00000613192.1:c.73+28672_73+28673delinsCG	ENSP00000483275.1:n.73+28672_73+28673delinsCG
ENST00000613374.4:c.159-28185_159-28184delinsCG	ENSP00000484464.1:n.159-28185_159-28184delinsCG
ENST00000613706.4:c.215+16321_215+16322delinsCG	ENSP00000484976.1:n.215+16321_215+16322delinsCG
ENST00000617164.4:c.1077_1078delinsCG	ENSP00000480470.1:p.Arg359_Lys360delinsSerGlu
ENST00000619009.4:c.364+11557_364+11558delinsCG	ENSP00000482293.1:n.364+11557_364+11558delinsCG
ENST00000620057.4:c.365-11428_365-11427delinsCG	ENSP00000481988.1:n.365-11428_365-11427delinsCG
NM_000465.3:c.1134_1135delinsCG	NP_000456.2:p.Arg378_Lys379delinsSerGlu
NM_001282543.1:c.1077_1078delinsCG	NP_001269472.1:p.Arg359_Lys360delinsSerGlu
NM_001282545.1:c.215+16321_215+16322delinsCG	NP_001269474.1:n.215+16321_215+16322delinsCG
NM_001282548.1:c.159-28185_159-28184delinsCG	NP_001269477.1:n.159-28185_159-28184delinsCG
NM_001282549.1:c.364+11557_364+11558delinsCG	NP_001269478.1:n.364+11557_364+11558delinsCG
NR_104212.1:n.1127_1128delinsCG
NR_104215.1:n.1070_1071delinsCG
NR_104216.1:n.507-11428_507-11427delinsCG
XM_011511567.1:c.1080_1081delinsCG	XP_011509869.1:p.Arg360_Lys361delinsSerGlu
XM_011511568.1:c.1134_1135delinsCG	XP_011509870.1:p.Arg378_Lys379delinsSerGlu
XM_017004613.1:c.1233_1234delinsCG	XP_016860102.1:p.Arg411_Lys412delinsSerGlu
XM_017004614.1:c.1233_1234delinsCG	XP_016860103.1:p.Arg411_Lys412delinsSerGlu
XR_002959322.1:n.1324_1325delinsCG
NM_000465.4:c.1134_1135delinsCG MANE Select	NP_000456.2:p.Arg378_Lys379delinsSerGlu
NM_001282543.2:c.1077_1078delinsCG	NP_001269472.1:p.Arg359_Lys360delinsSerGlu
NM_001282545.2:c.215+16321_215+16322delinsCG	NP_001269474.1:n.215+16321_215+16322delinsCG
NM_001282548.2:c.159-28185_159-28184delinsCG	NP_001269477.1:n.159-28185_159-28184delinsCG
NM_001282549.2:c.364+11557_364+11558delinsCG	NP_001269478.1:n.364+11557_364+11558delinsCG
NR_104212.2:n.1099_1100delinsCG
NR_104215.2:n.1042_1043delinsCG
NR_104216.2:n.479-11428_479-11427delinsCG