Canonical Allele Identifier: CA2662971832

Gene: BARD1

Linked Data

• gnomAD v4: 2-214781158-A-AGAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781159_214781160insAAGG , CM000664.2:g.214781159_214781160insAAGG	GRCh38
NC_000002.11:g.215645883_215645884insAAGG , CM000664.1:g.215645883_215645884insAAGG	GRCh37
NC_000002.10:g.215354128_215354129insAAGG	NCBI36
NG_012047.2:g.33546_33547insCTTC
NG_012047.3:g.33553_33554insCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.715_716insCTTC MANE Select	ENSP00000260947.4:p.Leu239ProfsTer7
ENST00000421162.2:c.215+15902_215+15903insCTTC	ENSP00000392245.2:n.215+15902_215+15903insCTTC
ENST00000613192.2:c.158+28253_158+28254insCTTC	ENSP00000483275.2:n.158+28253_158+28254insCTTC
ENST00000613374.5:c.158+28253_158+28254insCTTC	ENSP00000484464.1:n.158+28253_158+28254insCTTC
ENST00000613706.5:c.715_716insCTTC	ENSP00000484976.2:p.Leu239ProfsTer7
ENST00000617164.5:c.658_659insCTTC	ENSP00000480470.1:p.Leu220ProfsTer7
ENST00000619009.5:c.364+11138_364+11139insCTTC	ENSP00000482293.1:n.364+11138_364+11139insCTTC
ENST00000650978.1:c.557_558insCTTC
ENST00000260947.8:c.715_716insCTTC	ENSP00000260947.4:p.Leu239ProfsTer7
ENST00000421162.1:c.215+15902_215+15903insCTTC	ENSP00000392245.1:n.215+15902_215+15903insCTTC
ENST00000455743.5:c.*335_*336insCTTC	ENSP00000412186.1:n.*335_*336insCTTC
ENST00000471787.1:n.610_611insCTTC
ENST00000613192.1:c.73+28253_73+28254insCTTC	ENSP00000483275.1:n.73+28253_73+28254insCTTC
ENST00000613374.4:c.158+28253_158+28254insCTTC	ENSP00000484464.1:n.158+28253_158+28254insCTTC
ENST00000613706.4:c.215+15902_215+15903insCTTC	ENSP00000484976.1:n.215+15902_215+15903insCTTC
ENST00000617164.4:c.658_659insCTTC	ENSP00000480470.1:p.Leu220ProfsTer7
ENST00000619009.4:c.364+11138_364+11139insCTTC	ENSP00000482293.1:n.364+11138_364+11139insCTTC
ENST00000620057.4:c.364+11138_364+11139insCTTC	ENSP00000481988.1:n.364+11138_364+11139insCTTC
NM_000465.3:c.715_716insCTTC	NP_000456.2:p.Leu239ProfsTer7
NM_001282543.1:c.658_659insCTTC	NP_001269472.1:p.Leu220ProfsTer7
NM_001282545.1:c.215+15902_215+15903insCTTC	NP_001269474.1:n.215+15902_215+15903insCTTC
NM_001282548.1:c.158+28253_158+28254insCTTC	NP_001269477.1:n.158+28253_158+28254insCTTC
NM_001282549.1:c.364+11138_364+11139insCTTC	NP_001269478.1:n.364+11138_364+11139insCTTC
NR_104212.1:n.708_709insCTTC
NR_104215.1:n.651_652insCTTC
NR_104216.1:n.506+11138_506+11139insCTTC
XM_011511567.1:c.661_662insCTTC	XP_011509869.1:p.Leu221ProfsTer7
XM_011511568.1:c.715_716insCTTC	XP_011509870.1:p.Leu239ProfsTer7
XM_017004613.1:c.814_815insCTTC	XP_016860102.1:p.Leu272ProfsTer7
XM_017004614.1:c.814_815insCTTC	XP_016860103.1:p.Leu272ProfsTer7
XR_002959322.1:n.905_906insCTTC
NM_000465.4:c.715_716insCTTC MANE Select	NP_000456.2:p.Leu239ProfsTer7
NM_001282543.2:c.658_659insCTTC	NP_001269472.1:p.Leu220ProfsTer7
NM_001282545.2:c.215+15902_215+15903insCTTC	NP_001269474.1:n.215+15902_215+15903insCTTC
NM_001282548.2:c.158+28253_158+28254insCTTC	NP_001269477.1:n.158+28253_158+28254insCTTC
NM_001282549.2:c.364+11138_364+11139insCTTC	NP_001269478.1:n.364+11138_364+11139insCTTC
NR_104212.2:n.680_681insCTTC
NR_104215.2:n.623_624insCTTC
NR_104216.2:n.478+11138_478+11139insCTTC