Canonical Allele Identifier: CA10577831

Gene: BARD1

Linked Data

• ClinVar Variation Id: 232418
• ClinVar RCV Id: RCV000219768 ; RCV000657368 ; RCV001204956
• dbSNP Id: rs876659752
• gnomAD v4: 2-214781034-TAA-T
• MyVariant Identifiers: chr2:g.215645759_215645760del (hg19) ; chr2:g.214781035_214781036del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781036_214781037del , CM000664.2:g.214781036_214781037del	GRCh38
NC_000002.11:g.215645760_215645761del , CM000664.1:g.215645760_215645761del	GRCh37
NC_000002.10:g.215354005_215354006del	NCBI36
NG_012047.2:g.33669_33670del
NG_012047.3:g.33676_33677del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.838_839del MANE Select	ENSP00000260947.4:p.Leu280ThrfsTer4
ENST00000421162.2:c.215+16025_215+16026del	ENSP00000392245.2:n.215+16025_215+16026de...
ENST00000613192.2:c.158+28376_158+28377del	ENSP00000483275.2:n.158+28376_158+28377de...
ENST00000613374.5:c.158+28376_158+28377del	ENSP00000484464.1:n.158+28376_158+28377de...
ENST00000613706.5:c.838_839del	ENSP00000484976.2:p.Leu280ThrfsTer4
ENST00000617164.5:c.781_782del	ENSP00000480470.1:p.Leu261ThrfsTer4
ENST00000619009.5:c.364+11261_364+11262del	ENSP00000482293.1:n.364+11261_364+11262de...
ENST00000650978.1:c.680_681del
ENST00000260947.8:c.838_839del	ENSP00000260947.4:p.Leu280ThrfsTer4
ENST00000421162.1:c.215+16025_215+16026del	ENSP00000392245.1:n.215+16025_215+16026de...
ENST00000455743.5:c.*458_*459del	ENSP00000412186.1:n.*458_*459del
ENST00000471787.1:n.733_734del
ENST00000613192.1:c.73+28376_73+28377del	ENSP00000483275.1:n.73+28376_73+28377del
ENST00000613374.4:c.158+28376_158+28377del	ENSP00000484464.1:n.158+28376_158+28377de...
ENST00000613706.4:c.215+16025_215+16026del	ENSP00000484976.1:n.215+16025_215+16026de...
ENST00000617164.4:c.781_782del	ENSP00000480470.1:p.Leu261ThrfsTer4
ENST00000619009.4:c.364+11261_364+11262del	ENSP00000482293.1:n.364+11261_364+11262de...
ENST00000620057.4:c.364+11261_364+11262del	ENSP00000481988.1:n.364+11261_364+11262de...
NM_000465.3:c.838_839del	NP_000456.2:p.Leu280ThrfsTer4
NM_001282543.1:c.781_782del	NP_001269472.1:p.Leu261ThrfsTer4
NM_001282545.1:c.215+16025_215+16026del	NP_001269474.1:n.215+16025_215+16026del
NM_001282548.1:c.158+28376_158+28377del	NP_001269477.1:n.158+28376_158+28377del
NM_001282549.1:c.364+11261_364+11262del	NP_001269478.1:n.364+11261_364+11262del
NR_104212.1:n.831_832del
NR_104215.1:n.774_775del
NR_104216.1:n.506+11261_506+11262del
XM_011511567.1:c.784_785del	XP_011509869.1:p.Leu262ThrfsTer4
XM_011511568.1:c.838_839del	XP_011509870.1:p.Leu280ThrfsTer4
XM_017004613.1:c.937_938del	XP_016860102.1:p.Leu313ThrfsTer4
XM_017004614.1:c.937_938del	XP_016860103.1:p.Leu313ThrfsTer4
XR_002959322.1:n.1028_1029del
NM_000465.4:c.838_839del MANE Select	NP_000456.2:p.Leu280ThrfsTer4
NM_001282543.2:c.781_782del	NP_001269472.1:p.Leu261ThrfsTer4
NM_001282545.2:c.215+16025_215+16026del	NP_001269474.1:n.215+16025_215+16026del
NM_001282548.2:c.158+28376_158+28377del	NP_001269477.1:n.158+28376_158+28377del
NM_001282549.2:c.364+11261_364+11262del	NP_001269478.1:n.364+11261_364+11262del
NR_104212.2:n.803_804del
NR_104215.2:n.746_747del
NR_104216.2:n.478+11261_478+11262del