Canonical Allele Identifier: CA2695197115

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2679944
• ClinVar RCV Id: RCV003465007

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780873_214780874insG , CM000664.2:g.214780873_214780874insG	GRCh38
NC_000002.11:g.215645597_215645598insG , CM000664.1:g.215645597_215645598insG	GRCh37
NC_000002.10:g.215353842_215353843insG	NCBI36
NG_012047.2:g.33831_33832insC
NG_012047.3:g.33838_33839insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1000_1001insC MANE Select	ENSP00000260947.4:p.Lys334ThrfsTer4
ENST00000421162.2:c.215+16187_215+16188insC	ENSP00000392245.2:n.215+16187_215+16188insC
ENST00000613192.2:c.158+28538_158+28539insC	ENSP00000483275.2:n.158+28538_158+28539insC
ENST00000613374.5:c.159-28319_159-28318insC	ENSP00000484464.1:n.159-28319_159-28318insC
ENST00000613706.5:c.906+94_906+95insC	ENSP00000484976.2:n.906+94_906+95insC
ENST00000617164.5:c.943_944insC	ENSP00000480470.1:p.Lys315ThrfsTer4
ENST00000619009.5:c.364+11423_364+11424insC	ENSP00000482293.1:n.364+11423_364+11424insC
ENST00000650978.1:c.842_843insC
ENST00000260947.8:c.1000_1001insC	ENSP00000260947.4:p.Lys334ThrfsTer4
ENST00000421162.1:c.215+16187_215+16188insC	ENSP00000392245.1:n.215+16187_215+16188insC
ENST00000455743.5:c.*620_*621insC	ENSP00000412186.1:n.*620_*621insC
ENST00000613192.1:c.73+28538_73+28539insC	ENSP00000483275.1:n.73+28538_73+28539insC
ENST00000613374.4:c.159-28319_159-28318insC	ENSP00000484464.1:n.159-28319_159-28318insC
ENST00000613706.4:c.215+16187_215+16188insC	ENSP00000484976.1:n.215+16187_215+16188insC
ENST00000617164.4:c.943_944insC	ENSP00000480470.1:p.Lys315ThrfsTer4
ENST00000619009.4:c.364+11423_364+11424insC	ENSP00000482293.1:n.364+11423_364+11424insC
ENST00000620057.4:c.364+11423_364+11424insC	ENSP00000481988.1:n.364+11423_364+11424insC
NM_000465.3:c.1000_1001insC	NP_000456.2:p.Lys334ThrfsTer4
NM_001282543.1:c.943_944insC	NP_001269472.1:p.Lys315ThrfsTer4
NM_001282545.1:c.215+16187_215+16188insC	NP_001269474.1:n.215+16187_215+16188insC
NM_001282548.1:c.159-28319_159-28318insC	NP_001269477.1:n.159-28319_159-28318insC
NM_001282549.1:c.364+11423_364+11424insC	NP_001269478.1:n.364+11423_364+11424insC
NR_104212.1:n.993_994insC
NR_104215.1:n.936_937insC
NR_104216.1:n.506+11423_506+11424insC
XM_011511567.1:c.946_947insC	XP_011509869.1:p.Lys316ThrfsTer4
XM_011511568.1:c.1000_1001insC	XP_011509870.1:p.Lys334ThrfsTer4
XM_017004613.1:c.1099_1100insC	XP_016860102.1:p.Lys367ThrfsTer4
XM_017004614.1:c.1099_1100insC	XP_016860103.1:p.Lys367ThrfsTer4
XR_002959322.1:n.1190_1191insC
NM_000465.4:c.1000_1001insC MANE Select	NP_000456.2:p.Lys334ThrfsTer4
NM_001282543.2:c.943_944insC	NP_001269472.1:p.Lys315ThrfsTer4
NM_001282545.2:c.215+16187_215+16188insC	NP_001269474.1:n.215+16187_215+16188insC
NM_001282548.2:c.159-28319_159-28318insC	NP_001269477.1:n.159-28319_159-28318insC
NM_001282549.2:c.364+11423_364+11424insC	NP_001269478.1:n.364+11423_364+11424insC
NR_104212.2:n.965_966insC
NR_104215.2:n.908_909insC
NR_104216.2:n.478+11423_478+11424insC