Canonical Allele Identifier: CA2697550342

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2704938
• ClinVar RCV Id: RCV003501172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781239_214781240delinsAG , CM000664.2:g.214781239_214781240delinsAG	GRCh38
NC_000002.11:g.215645963_215645964delinsAG , CM000664.1:g.215645963_215645964delinsAG	GRCh37
NC_000002.10:g.215354208_215354209delinsAG	NCBI36
NG_012047.2:g.33465_33466delinsCT
NG_012047.3:g.33472_33473delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.634_635delinsCT MANE Select	ENSP00000260947.4:p.Ala212Leu
ENST00000421162.2:c.215+15821_215+15822delinsCT	ENSP00000392245.2:n.215+15821_215+15822delinsCT
ENST00000613192.2:c.158+28172_158+28173delinsCT	ENSP00000483275.2:n.158+28172_158+28173delinsCT
ENST00000613374.5:c.158+28172_158+28173delinsCT	ENSP00000484464.1:n.158+28172_158+28173delinsCT
ENST00000613706.5:c.634_635delinsCT	ENSP00000484976.2:p.Ala212Leu
ENST00000617164.5:c.577_578delinsCT	ENSP00000480470.1:p.Ala193Leu
ENST00000619009.5:c.364+11057_364+11058delinsCT	ENSP00000482293.1:n.364+11057_364+11058delinsCT
ENST00000650978.1:c.476_477delinsCT
ENST00000260947.8:c.634_635delinsCT	ENSP00000260947.4:p.Ala212Leu
ENST00000421162.1:c.215+15821_215+15822delinsCT	ENSP00000392245.1:n.215+15821_215+15822delinsCT
ENST00000455743.5:c.*254_*255delinsCT	ENSP00000412186.1:n.*254_*255delinsCT
ENST00000471787.1:n.529_530delinsCT
ENST00000613192.1:c.73+28172_73+28173delinsCT	ENSP00000483275.1:n.73+28172_73+28173delinsCT
ENST00000613374.4:c.158+28172_158+28173delinsCT	ENSP00000484464.1:n.158+28172_158+28173delinsCT
ENST00000613706.4:c.215+15821_215+15822delinsCT	ENSP00000484976.1:n.215+15821_215+15822delinsCT
ENST00000617164.4:c.577_578delinsCT	ENSP00000480470.1:p.Ala193Leu
ENST00000619009.4:c.364+11057_364+11058delinsCT	ENSP00000482293.1:n.364+11057_364+11058delinsCT
ENST00000620057.4:c.364+11057_364+11058delinsCT	ENSP00000481988.1:n.364+11057_364+11058delinsCT
NM_000465.3:c.634_635delinsCT	NP_000456.2:p.Ala212Leu
NM_001282543.1:c.577_578delinsCT	NP_001269472.1:p.Ala193Leu
NM_001282545.1:c.215+15821_215+15822delinsCT	NP_001269474.1:n.215+15821_215+15822delinsCT
NM_001282548.1:c.158+28172_158+28173delinsCT	NP_001269477.1:n.158+28172_158+28173delinsCT
NM_001282549.1:c.364+11057_364+11058delinsCT	NP_001269478.1:n.364+11057_364+11058delinsCT
NR_104212.1:n.627_628delinsCT
NR_104215.1:n.570_571delinsCT
NR_104216.1:n.506+11057_506+11058delinsCT
XM_011511567.1:c.580_581delinsCT	XP_011509869.1:p.Ala194Leu
XM_011511568.1:c.634_635delinsCT	XP_011509870.1:p.Ala212Leu
XM_017004613.1:c.733_734delinsCT	XP_016860102.1:p.Ala245Leu
XM_017004614.1:c.733_734delinsCT	XP_016860103.1:p.Ala245Leu
XR_002959322.1:n.824_825delinsCT
NM_000465.4:c.634_635delinsCT MANE Select	NP_000456.2:p.Ala212Leu
NM_001282543.2:c.577_578delinsCT	NP_001269472.1:p.Ala193Leu
NM_001282545.2:c.215+15821_215+15822delinsCT	NP_001269474.1:n.215+15821_215+15822delinsCT
NM_001282548.2:c.158+28172_158+28173delinsCT	NP_001269477.1:n.158+28172_158+28173delinsCT
NM_001282549.2:c.364+11057_364+11058delinsCT	NP_001269478.1:n.364+11057_364+11058delinsCT
NR_104212.2:n.599_600delinsCT
NR_104215.2:n.542_543delinsCT
NR_104216.2:n.478+11057_478+11058delinsCT