Canonical Allele Identifier: CA337035

Gene: BARD1

Linked Data

• ClinVar Variation Id: 215472
• ClinVar RCV Id: RCV000197210 ; RCV000478554 ; RCV000579971 ; RCV003477650
• dbSNP Id: rs776103948
• ExAC: 2:215646240 GA / G
• gnomAD v2: 2-215646240-GA-G
• gnomAD v3: 2-214781516-GA-G
• gnomAD v4: 2-214781516-GA-G
• MyVariant Identifiers: chr2:g.215646241del (hg19) ; chr2:g.214781518del (hg38) ; chr2:g.214781517del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781523del , CM000664.2:g.214781523del	GRCh38
NC_000002.11:g.215646247del , CM000664.1:g.215646247del	GRCh37
NC_000002.10:g.215354492del	NCBI36
NG_012047.2:g.33188del
NG_012047.3:g.33195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.365-8del MANE Select	ENSP00000260947.4:n.365-8del
ENST00000421162.2:c.215+15544del	ENSP00000392245.2:n.215+15544del
ENST00000613192.2:c.158+27895del	ENSP00000483275.2:n.158+27895del
ENST00000613374.5:c.158+27895del	ENSP00000484464.1:n.158+27895del
ENST00000613706.5:c.365-8del	ENSP00000484976.2:n.365-8del
ENST00000617164.5:c.308-8del	ENSP00000480470.1:n.308-8del
ENST00000619009.5:c.364+10780del	ENSP00000482293.1:n.364+10780del
ENST00000650978.1:c.207-8del
ENST00000260947.8:c.365-8del	ENSP00000260947.4:n.365-8del
ENST00000421162.1:c.215+15544del	ENSP00000392245.1:n.215+15544del
ENST00000455743.5:c.216-8del	ENSP00000412186.1:n.216-8del
ENST00000471787.1:n.260-8del
ENST00000613192.1:c.73+27895del	ENSP00000483275.1:n.73+27895del
ENST00000613374.4:c.158+27895del	ENSP00000484464.1:n.158+27895del
ENST00000613706.4:c.215+15544del	ENSP00000484976.1:n.215+15544del
ENST00000617164.4:c.308-8del	ENSP00000480470.1:n.308-8del
ENST00000619009.4:c.364+10780del	ENSP00000482293.1:n.364+10780del
ENST00000620057.4:c.364+10780del	ENSP00000481988.1:n.364+10780del
NM_000465.3:c.365-8del	NP_000456.2:n.365-8del
NM_001282543.1:c.308-8del	NP_001269472.1:n.308-8del
NM_001282545.1:c.215+15544del	NP_001269474.1:n.215+15544del
NM_001282548.1:c.158+27895del	NP_001269477.1:n.158+27895del
NM_001282549.1:c.364+10780del	NP_001269478.1:n.364+10780del
NR_104212.1:n.358-8del
NR_104215.1:n.301-8del
NR_104216.1:n.506+10780del
XM_011511567.1:c.311-8del	XP_011509869.1:n.311-8del
XM_011511568.1:c.365-8del	XP_011509870.1:n.365-8del
XM_017004613.1:c.464-8del	XP_016860102.1:n.464-8del
XM_017004614.1:c.464-8del	XP_016860103.1:n.464-8del
XR_002959322.1:n.555-8del
NM_000465.4:c.365-8del MANE Select	NP_000456.2:n.365-8del
NM_001282543.2:c.308-8del	NP_001269472.1:n.308-8del
NM_001282545.2:c.215+15544del	NP_001269474.1:n.215+15544del
NM_001282548.2:c.158+27895del	NP_001269477.1:n.158+27895del
NM_001282549.2:c.364+10780del	NP_001269478.1:n.364+10780del
NR_104212.2:n.330-8del
NR_104215.2:n.273-8del
NR_104216.2:n.478+10780del