Canonical Allele Identifier: CA915941687

Gene: BARD1

Linked Data

• ClinVar Variation Id: 822152
• ClinVar RCV Id: RCV001017262
• dbSNP Id: rs1574817430

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780781_214780783del , CM000664.2:g.214780781_214780783del	GRCh38
NC_000002.11:g.215645505_215645507del , CM000664.1:g.215645505_215645507del	GRCh37
NC_000002.10:g.215353750_215353752del	NCBI36
NG_012047.2:g.33926_33928del
NG_012047.3:g.33933_33935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1095_1097del MANE Select	ENSP00000260947.4:p.Pro366del
ENST00000421162.2:c.215+16282_215+16284del	ENSP00000392245.2:n.215+16282_215+16284del
ENST00000613192.2:c.158+28633_158+28635del	ENSP00000483275.2:n.158+28633_158+28635del
ENST00000613374.5:c.159-28224_159-28222del	ENSP00000484464.1:n.159-28224_159-28222del
ENST00000613706.5:c.906+189_906+191del	ENSP00000484976.2:n.906+189_906+191del
ENST00000617164.5:c.1038_1040del	ENSP00000480470.1:p.Pro347del
ENST00000619009.5:c.364+11518_364+11520del	ENSP00000482293.1:n.364+11518_364+11520del
ENST00000650978.1:c.937_939del
ENST00000260947.8:c.1095_1097del	ENSP00000260947.4:p.Pro366del
ENST00000421162.1:c.215+16282_215+16284del	ENSP00000392245.1:n.215+16282_215+16284del
ENST00000455743.5:c.*715_*717del	ENSP00000412186.1:n.*715_*717del
ENST00000613192.1:c.73+28633_73+28635del	ENSP00000483275.1:n.73+28633_73+28635del
ENST00000613374.4:c.159-28224_159-28222del	ENSP00000484464.1:n.159-28224_159-28222del
ENST00000613706.4:c.215+16282_215+16284del	ENSP00000484976.1:n.215+16282_215+16284del
ENST00000617164.4:c.1038_1040del	ENSP00000480470.1:p.Pro347del
ENST00000619009.4:c.364+11518_364+11520del	ENSP00000482293.1:n.364+11518_364+11520del
ENST00000620057.4:c.365-11467_365-11465del	ENSP00000481988.1:n.365-11467_365-11465del
NM_000465.3:c.1095_1097del	NP_000456.2:p.Pro366del
NM_001282543.1:c.1038_1040del	NP_001269472.1:p.Pro347del
NM_001282545.1:c.215+16282_215+16284del	NP_001269474.1:n.215+16282_215+16284del
NM_001282548.1:c.159-28224_159-28222del	NP_001269477.1:n.159-28224_159-28222del
NM_001282549.1:c.364+11518_364+11520del	NP_001269478.1:n.364+11518_364+11520del
NR_104212.1:n.1088_1090del
NR_104215.1:n.1031_1033del
NR_104216.1:n.507-11467_507-11465del
XM_011511567.1:c.1041_1043del	XP_011509869.1:p.Pro348del
XM_011511568.1:c.1095_1097del	XP_011509870.1:p.Pro366del
XM_017004613.1:c.1194_1196del	XP_016860102.1:p.Pro399del
XM_017004614.1:c.1194_1196del	XP_016860103.1:p.Pro399del
XR_002959322.1:n.1285_1287del
NM_000465.4:c.1095_1097del MANE Select	NP_000456.2:p.Pro366del
NM_001282543.2:c.1038_1040del	NP_001269472.1:p.Pro347del
NM_001282545.2:c.215+16282_215+16284del	NP_001269474.1:n.215+16282_215+16284del
NM_001282548.2:c.159-28224_159-28222del	NP_001269477.1:n.159-28224_159-28222del
NM_001282549.2:c.364+11518_364+11520del	NP_001269478.1:n.364+11518_364+11520del
NR_104212.2:n.1060_1062del
NR_104215.2:n.1003_1005del
NR_104216.2:n.479-11467_479-11465del