Canonical Allele Identifier: CA2573135138

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1423738
• ClinVar RCV Id: RCV001929056
• dbSNP Id: rs2106108263

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780696_214780704del , CM000664.2:g.214780696_214780704del	GRCh38
NC_000002.11:g.215645420_215645428del , CM000664.1:g.215645420_215645428del	GRCh37
NC_000002.10:g.215353665_215353673del	NCBI36
NG_012047.2:g.34002_34010del
NG_012047.3:g.34009_34017del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1171_1179del MANE Select	ENSP00000260947.4:p.Ser391_Gly393del
ENST00000421162.2:c.215+16358_215+16366del	ENSP00000392245.2:n.215+16358_215+16366del
ENST00000613192.2:c.158+28709_158+28717del	ENSP00000483275.2:n.158+28709_158+28717del
ENST00000613374.5:c.159-28148_159-28140del	ENSP00000484464.1:n.159-28148_159-28140del
ENST00000613706.5:c.906+265_906+273del	ENSP00000484976.2:n.906+265_906+273del
ENST00000617164.5:c.1114_1122del	ENSP00000480470.1:p.Ser372_Gly374del
ENST00000619009.5:c.364+11594_364+11602del	ENSP00000482293.1:n.364+11594_364+11602del
ENST00000650978.1:c.1013_1021del
ENST00000260947.8:c.1171_1179del	ENSP00000260947.4:p.Ser391_Gly393del
ENST00000421162.1:c.215+16358_215+16366del	ENSP00000392245.1:n.215+16358_215+16366del
ENST00000455743.5:c.*791_*799del	ENSP00000412186.1:n.*791_*799del
ENST00000613192.1:c.73+28709_73+28717del	ENSP00000483275.1:n.73+28709_73+28717del
ENST00000613374.4:c.159-28148_159-28140del	ENSP00000484464.1:n.159-28148_159-28140del
ENST00000613706.4:c.215+16358_215+16366del	ENSP00000484976.1:n.215+16358_215+16366del
ENST00000617164.4:c.1114_1122del	ENSP00000480470.1:p.Ser372_Gly374del
ENST00000619009.4:c.364+11594_364+11602del	ENSP00000482293.1:n.364+11594_364+11602del
ENST00000620057.4:c.365-11391_365-11383del	ENSP00000481988.1:n.365-11391_365-11383del
NM_000465.3:c.1171_1179del	NP_000456.2:p.Ser391_Gly393del
NM_001282543.1:c.1114_1122del	NP_001269472.1:p.Ser372_Gly374del
NM_001282545.1:c.215+16358_215+16366del	NP_001269474.1:n.215+16358_215+16366del
NM_001282548.1:c.159-28148_159-28140del	NP_001269477.1:n.159-28148_159-28140del
NM_001282549.1:c.364+11594_364+11602del	NP_001269478.1:n.364+11594_364+11602del
NR_104212.1:n.1164_1172del
NR_104215.1:n.1107_1115del
NR_104216.1:n.507-11391_507-11383del
XM_011511567.1:c.1117_1125del	XP_011509869.1:p.Ser373_Gly375del
XM_011511568.1:c.1171_1179del	XP_011509870.1:p.Ser391_Gly393del
XM_017004613.1:c.1270_1278del	XP_016860102.1:p.Ser424_Gly426del
XM_017004614.1:c.1270_1278del	XP_016860103.1:p.Ser424_Gly426del
XR_002959322.1:n.1361_1369del
NM_000465.4:c.1171_1179del MANE Select	NP_000456.2:p.Ser391_Gly393del
NM_001282543.2:c.1114_1122del	NP_001269472.1:p.Ser372_Gly374del
NM_001282545.2:c.215+16358_215+16366del	NP_001269474.1:n.215+16358_215+16366del
NM_001282548.2:c.159-28148_159-28140del	NP_001269477.1:n.159-28148_159-28140del
NM_001282549.2:c.364+11594_364+11602del	NP_001269478.1:n.364+11594_364+11602del
NR_104212.2:n.1136_1144del
NR_104215.2:n.1079_1087del
NR_104216.2:n.479-11391_479-11383del