Canonical Allele Identifier: CA913188003

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2585696
• ClinVar RCV Id: RCV003358171

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780738_214780740delinsGTG , CM000664.2:g.214780738_214780740delinsGTG	GRCh38
NC_000002.11:g.215645462_215645464delinsGTG , CM000664.1:g.215645462_215645464delinsGTG	GRCh37
NC_000002.10:g.215353707_215353709delinsGTG	NCBI36
NG_012047.2:g.33965_33967delinsCAC
NG_012047.3:g.33972_33974delinsCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1134_1136delinsCAC MANE Select	ENSP00000260947.4:p.Arg378_Lys379delinsSerThr
ENST00000421162.2:c.215+16321_215+16323delinsCAC	ENSP00000392245.2:n.215+16321_215+16323delinsCAC
ENST00000613192.2:c.158+28672_158+28674delinsCAC	ENSP00000483275.2:n.158+28672_158+28674delinsCAC
ENST00000613374.5:c.159-28185_159-28183delinsCAC	ENSP00000484464.1:n.159-28185_159-28183delinsCAC
ENST00000613706.5:c.906+228_906+230delinsCAC	ENSP00000484976.2:n.906+228_906+230delinsCAC
ENST00000617164.5:c.1077_1079delinsCAC	ENSP00000480470.1:p.Arg359_Lys360delinsSerThr
ENST00000619009.5:c.364+11557_364+11559delinsCAC	ENSP00000482293.1:n.364+11557_364+11559delinsCAC
ENST00000650978.1:c.976_978delinsCAC
ENST00000260947.8:c.1134_1136delinsCAC	ENSP00000260947.4:p.Arg378_Lys379delinsSerThr
ENST00000421162.1:c.215+16321_215+16323delinsCAC	ENSP00000392245.1:n.215+16321_215+16323delinsCAC
ENST00000455743.5:c.*754_*756delinsCAC	ENSP00000412186.1:n.*754_*756delinsCAC
ENST00000613192.1:c.73+28672_73+28674delinsCAC	ENSP00000483275.1:n.73+28672_73+28674delinsCAC
ENST00000613374.4:c.159-28185_159-28183delinsCAC	ENSP00000484464.1:n.159-28185_159-28183delinsCAC
ENST00000613706.4:c.215+16321_215+16323delinsCAC	ENSP00000484976.1:n.215+16321_215+16323delinsCAC
ENST00000617164.4:c.1077_1079delinsCAC	ENSP00000480470.1:p.Arg359_Lys360delinsSerThr
ENST00000619009.4:c.364+11557_364+11559delinsCAC	ENSP00000482293.1:n.364+11557_364+11559delinsCAC
ENST00000620057.4:c.365-11428_365-11426delinsCAC	ENSP00000481988.1:n.365-11428_365-11426delinsCAC
NM_000465.3:c.1134_1136delinsCAC	NP_000456.2:p.Arg378_Lys379delinsSerThr
NM_001282543.1:c.1077_1079delinsCAC	NP_001269472.1:p.Arg359_Lys360delinsSerThr
NM_001282545.1:c.215+16321_215+16323delinsCAC	NP_001269474.1:n.215+16321_215+16323delinsCAC
NM_001282548.1:c.159-28185_159-28183delinsCAC	NP_001269477.1:n.159-28185_159-28183delinsCAC
NM_001282549.1:c.364+11557_364+11559delinsCAC	NP_001269478.1:n.364+11557_364+11559delinsCAC
NR_104212.1:n.1127_1129delinsCAC
NR_104215.1:n.1070_1072delinsCAC
NR_104216.1:n.507-11428_507-11426delinsCAC
XM_011511567.1:c.1080_1082delinsCAC	XP_011509869.1:p.Arg360_Lys361delinsSerThr
XM_011511568.1:c.1134_1136delinsCAC	XP_011509870.1:p.Arg378_Lys379delinsSerThr
XM_017004613.1:c.1233_1235delinsCAC	XP_016860102.1:p.Arg411_Lys412delinsSerThr
XM_017004614.1:c.1233_1235delinsCAC	XP_016860103.1:p.Arg411_Lys412delinsSerThr
XR_002959322.1:n.1324_1326delinsCAC
NM_000465.4:c.1134_1136delinsCAC MANE Select	NP_000456.2:p.Arg378_Lys379delinsSerThr
NM_001282543.2:c.1077_1079delinsCAC	NP_001269472.1:p.Arg359_Lys360delinsSerThr
NM_001282545.2:c.215+16321_215+16323delinsCAC	NP_001269474.1:n.215+16321_215+16323delinsCAC
NM_001282548.2:c.159-28185_159-28183delinsCAC	NP_001269477.1:n.159-28185_159-28183delinsCAC
NM_001282549.2:c.364+11557_364+11559delinsCAC	NP_001269478.1:n.364+11557_364+11559delinsCAC
NR_104212.2:n.1099_1101delinsCAC
NR_104215.2:n.1042_1044delinsCAC
NR_104216.2:n.479-11428_479-11426delinsCAC