Canonical Allele Identifier: CA2580616688

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1776479
• ClinVar RCV Id: RCV002400968

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780872_214780873del , CM000664.2:g.214780872_214780873del	GRCh38
NC_000002.11:g.215645596_215645597del , CM000664.1:g.215645596_215645597del	GRCh37
NC_000002.10:g.215353841_215353842del	NCBI36
NG_012047.2:g.33835_33836del
NG_012047.3:g.33842_33843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1004_1005del MANE Select	ENSP00000260947.4:p.Arg335MetfsTer2
ENST00000421162.2:c.215+16191_215+16192del	ENSP00000392245.2:n.215+16191_215+16192del
ENST00000613192.2:c.158+28542_158+28543del	ENSP00000483275.2:n.158+28542_158+28543del
ENST00000613374.5:c.159-28315_159-28314del	ENSP00000484464.1:n.159-28315_159-28314del
ENST00000613706.5:c.906+98_906+99del	ENSP00000484976.2:n.906+98_906+99del
ENST00000617164.5:c.947_948del	ENSP00000480470.1:p.Arg316MetfsTer2
ENST00000619009.5:c.364+11427_364+11428del	ENSP00000482293.1:n.364+11427_364+11428del
ENST00000650978.1:c.846_847del
ENST00000260947.8:c.1004_1005del	ENSP00000260947.4:p.Arg335MetfsTer2
ENST00000421162.1:c.215+16191_215+16192del	ENSP00000392245.1:n.215+16191_215+16192del
ENST00000455743.5:c.*624_*625del	ENSP00000412186.1:n.*624_*625del
ENST00000613192.1:c.73+28542_73+28543del	ENSP00000483275.1:n.73+28542_73+28543del
ENST00000613374.4:c.159-28315_159-28314del	ENSP00000484464.1:n.159-28315_159-28314del
ENST00000613706.4:c.215+16191_215+16192del	ENSP00000484976.1:n.215+16191_215+16192del
ENST00000617164.4:c.947_948del	ENSP00000480470.1:p.Arg316MetfsTer2
ENST00000619009.4:c.364+11427_364+11428del	ENSP00000482293.1:n.364+11427_364+11428del
ENST00000620057.4:c.364+11427_364+11428del	ENSP00000481988.1:n.364+11427_364+11428del
NM_000465.3:c.1004_1005del	NP_000456.2:p.Arg335MetfsTer2
NM_001282543.1:c.947_948del	NP_001269472.1:p.Arg316MetfsTer2
NM_001282545.1:c.215+16191_215+16192del	NP_001269474.1:n.215+16191_215+16192del
NM_001282548.1:c.159-28315_159-28314del	NP_001269477.1:n.159-28315_159-28314del
NM_001282549.1:c.364+11427_364+11428del	NP_001269478.1:n.364+11427_364+11428del
NR_104212.1:n.997_998del
NR_104215.1:n.940_941del
NR_104216.1:n.506+11427_506+11428del
XM_011511567.1:c.950_951del	XP_011509869.1:p.Arg317MetfsTer2
XM_011511568.1:c.1004_1005del	XP_011509870.1:p.Arg335MetfsTer2
XM_017004613.1:c.1103_1104del	XP_016860102.1:p.Arg368MetfsTer2
XM_017004614.1:c.1103_1104del	XP_016860103.1:p.Arg368MetfsTer2
XR_002959322.1:n.1194_1195del
NM_000465.4:c.1004_1005del MANE Select	NP_000456.2:p.Arg335MetfsTer2
NM_001282543.2:c.947_948del	NP_001269472.1:p.Arg316MetfsTer2
NM_001282545.2:c.215+16191_215+16192del	NP_001269474.1:n.215+16191_215+16192del
NM_001282548.2:c.159-28315_159-28314del	NP_001269477.1:n.159-28315_159-28314del
NM_001282549.2:c.364+11427_364+11428del	NP_001269478.1:n.364+11427_364+11428del
NR_104212.2:n.969_970del
NR_104215.2:n.912_913del
NR_104216.2:n.478+11427_478+11428del