Canonical Allele Identifier: CA16617445

Gene: BARD1

Linked Data

• ClinVar Variation Id: 419699
• ClinVar RCV Id: RCV000486835 ; RCV001356832 ; RCV001851170
• dbSNP Id: rs1064794052

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780775_214780776delinsGT , CM000664.2:g.214780775_214780776delinsGT	GRCh38
NC_000002.11:g.215645499_215645500delinsGT , CM000664.1:g.215645499_215645500delinsGT	GRCh37
NC_000002.10:g.215353744_215353745delinsGT	NCBI36
NG_012047.2:g.33929_33930delinsAC
NG_012047.3:g.33936_33937delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1098_1099delinsAC MANE Select	ENSP00000260947.4:p.Ser367Pro
ENST00000421162.2:c.215+16285_215+16286delinsAC	ENSP00000392245.2:n.215+16285_215+16286delinsAC
ENST00000613192.2:c.158+28636_158+28637delinsAC	ENSP00000483275.2:n.158+28636_158+28637delinsAC
ENST00000613374.5:c.159-28221_159-28220delinsAC	ENSP00000484464.1:n.159-28221_159-28220delinsAC
ENST00000613706.5:c.906+192_906+193delinsAC	ENSP00000484976.2:n.906+192_906+193delinsAC
ENST00000617164.5:c.1041_1042delinsAC	ENSP00000480470.1:p.Ser348Pro
ENST00000619009.5:c.364+11521_364+11522delinsAC	ENSP00000482293.1:n.364+11521_364+11522delinsAC
ENST00000650978.1:c.940_941delinsAC
ENST00000260947.8:c.1098_1099delinsAC	ENSP00000260947.4:p.Ser367Pro
ENST00000421162.1:c.215+16285_215+16286delinsAC	ENSP00000392245.1:n.215+16285_215+16286delinsAC
ENST00000455743.5:c.*718_*719delinsAC	ENSP00000412186.1:n.*718_*719delinsAC
ENST00000613192.1:c.73+28636_73+28637delinsAC	ENSP00000483275.1:n.73+28636_73+28637delinsAC
ENST00000613374.4:c.159-28221_159-28220delinsAC	ENSP00000484464.1:n.159-28221_159-28220delinsAC
ENST00000613706.4:c.215+16285_215+16286delinsAC	ENSP00000484976.1:n.215+16285_215+16286delinsAC
ENST00000617164.4:c.1041_1042delinsAC	ENSP00000480470.1:p.Ser348Pro
ENST00000619009.4:c.364+11521_364+11522delinsAC	ENSP00000482293.1:n.364+11521_364+11522delinsAC
ENST00000620057.4:c.365-11464_365-11463delinsAC	ENSP00000481988.1:n.365-11464_365-11463delinsAC
NM_000465.3:c.1098_1099delinsAC	NP_000456.2:p.Ser367Pro
NM_001282543.1:c.1041_1042delinsAC	NP_001269472.1:p.Ser348Pro
NM_001282545.1:c.215+16285_215+16286delinsAC	NP_001269474.1:n.215+16285_215+16286delinsAC
NM_001282548.1:c.159-28221_159-28220delinsAC	NP_001269477.1:n.159-28221_159-28220delinsAC
NM_001282549.1:c.364+11521_364+11522delinsAC	NP_001269478.1:n.364+11521_364+11522delinsAC
NR_104212.1:n.1091_1092delinsAC
NR_104215.1:n.1034_1035delinsAC
NR_104216.1:n.507-11464_507-11463delinsAC
XM_011511567.1:c.1044_1045delinsAC	XP_011509869.1:p.Ser349Pro
XM_011511568.1:c.1098_1099delinsAC	XP_011509870.1:p.Ser367Pro
XM_017004613.1:c.1197_1198delinsAC	XP_016860102.1:p.Ser400Pro
XM_017004614.1:c.1197_1198delinsAC	XP_016860103.1:p.Ser400Pro
XR_002959322.1:n.1288_1289delinsAC
NM_000465.4:c.1098_1099delinsAC MANE Select	NP_000456.2:p.Ser367Pro
NM_001282543.2:c.1041_1042delinsAC	NP_001269472.1:p.Ser348Pro
NM_001282545.2:c.215+16285_215+16286delinsAC	NP_001269474.1:n.215+16285_215+16286delinsAC
NM_001282548.2:c.159-28221_159-28220delinsAC	NP_001269477.1:n.159-28221_159-28220delinsAC
NM_001282549.2:c.364+11521_364+11522delinsAC	NP_001269478.1:n.364+11521_364+11522delinsAC
NR_104212.2:n.1063_1064delinsAC
NR_104215.2:n.1006_1007delinsAC
NR_104216.2:n.479-11464_479-11463delinsAC