Canonical Allele Identifier: CA2580065693

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1752894
• ClinVar RCV Id: RCV002354023 ; RCV003098207

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781244del , CM000664.2:g.214781244del	GRCh38
NC_000002.11:g.215645968del , CM000664.1:g.215645968del	GRCh37
NC_000002.10:g.215354213del	NCBI36
NG_012047.2:g.33463del
NG_012047.3:g.33470del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.632del MANE Select	ENSP00000260947.4:p.Leu211Ter
ENST00000421162.2:c.215+15819del	ENSP00000392245.2:n.215+15819del
ENST00000613192.2:c.158+28170del	ENSP00000483275.2:n.158+28170del
ENST00000613374.5:c.158+28170del	ENSP00000484464.1:n.158+28170del
ENST00000613706.5:c.632del	ENSP00000484976.2:p.Leu211Ter
ENST00000617164.5:c.575del	ENSP00000480470.1:p.Leu192Ter
ENST00000619009.5:c.364+11055del	ENSP00000482293.1:n.364+11055del
ENST00000650978.1:c.474del
ENST00000260947.8:c.632del	ENSP00000260947.4:p.Leu211Ter
ENST00000421162.1:c.215+15819del	ENSP00000392245.1:n.215+15819del
ENST00000455743.5:c.*252del	ENSP00000412186.1:n.*252del
ENST00000471787.1:n.527del
ENST00000613192.1:c.73+28170del	ENSP00000483275.1:n.73+28170del
ENST00000613374.4:c.158+28170del	ENSP00000484464.1:n.158+28170del
ENST00000613706.4:c.215+15819del	ENSP00000484976.1:n.215+15819del
ENST00000617164.4:c.575del	ENSP00000480470.1:p.Leu192Ter
ENST00000619009.4:c.364+11055del	ENSP00000482293.1:n.364+11055del
ENST00000620057.4:c.364+11055del	ENSP00000481988.1:n.364+11055del
NM_000465.3:c.632del	NP_000456.2:p.Leu211Ter
NM_001282543.1:c.575del	NP_001269472.1:p.Leu192Ter
NM_001282545.1:c.215+15819del	NP_001269474.1:n.215+15819del
NM_001282548.1:c.158+28170del	NP_001269477.1:n.158+28170del
NM_001282549.1:c.364+11055del	NP_001269478.1:n.364+11055del
NR_104212.1:n.625del
NR_104215.1:n.568del
NR_104216.1:n.506+11055del
XM_011511567.1:c.578del	XP_011509869.1:p.Leu193Ter
XM_011511568.1:c.632del	XP_011509870.1:p.Leu211Ter
XM_017004613.1:c.731del	XP_016860102.1:p.Leu244Ter
XM_017004614.1:c.731del	XP_016860103.1:p.Leu244Ter
XR_002959322.1:n.822del
NM_000465.4:c.632del MANE Select	NP_000456.2:p.Leu211Ter
NM_001282543.2:c.575del	NP_001269472.1:p.Leu192Ter
NM_001282545.2:c.215+15819del	NP_001269474.1:n.215+15819del
NM_001282548.2:c.158+28170del	NP_001269477.1:n.158+28170del
NM_001282549.2:c.364+11055del	NP_001269478.1:n.364+11055del
NR_104212.2:n.597del
NR_104215.2:n.540del
NR_104216.2:n.478+11055del