Canonical Allele Identifier: CA2580065728

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2068284
• ClinVar RCV Id: RCV002971048
• gnomAD v4: 2-214781524-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781529del , CM000664.2:g.214781529del	GRCh38
NC_000002.11:g.215646253del , CM000664.1:g.215646253del	GRCh37
NC_000002.10:g.215354498del	NCBI36
NG_012047.2:g.33180del
NG_012047.3:g.33187del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.365-16del MANE Select	ENSP00000260947.4:n.365-16del
ENST00000421162.2:c.215+15536del	ENSP00000392245.2:n.215+15536del
ENST00000613192.2:c.158+27887del	ENSP00000483275.2:n.158+27887del
ENST00000613374.5:c.158+27887del	ENSP00000484464.1:n.158+27887del
ENST00000613706.5:c.365-16del	ENSP00000484976.2:n.365-16del
ENST00000617164.5:c.308-16del	ENSP00000480470.1:n.308-16del
ENST00000619009.5:c.364+10772del	ENSP00000482293.1:n.364+10772del
ENST00000650978.1:c.207-16del
ENST00000260947.8:c.365-16del	ENSP00000260947.4:n.365-16del
ENST00000421162.1:c.215+15536del	ENSP00000392245.1:n.215+15536del
ENST00000455743.5:c.216-16del	ENSP00000412186.1:n.216-16del
ENST00000471787.1:n.260-16del
ENST00000613192.1:c.73+27887del	ENSP00000483275.1:n.73+27887del
ENST00000613374.4:c.158+27887del	ENSP00000484464.1:n.158+27887del
ENST00000613706.4:c.215+15536del	ENSP00000484976.1:n.215+15536del
ENST00000617164.4:c.308-16del	ENSP00000480470.1:n.308-16del
ENST00000619009.4:c.364+10772del	ENSP00000482293.1:n.364+10772del
ENST00000620057.4:c.364+10772del	ENSP00000481988.1:n.364+10772del
NM_000465.3:c.365-16del	NP_000456.2:n.365-16del
NM_001282543.1:c.308-16del	NP_001269472.1:n.308-16del
NM_001282545.1:c.215+15536del	NP_001269474.1:n.215+15536del
NM_001282548.1:c.158+27887del	NP_001269477.1:n.158+27887del
NM_001282549.1:c.364+10772del	NP_001269478.1:n.364+10772del
NR_104212.1:n.358-16del
NR_104215.1:n.301-16del
NR_104216.1:n.506+10772del
XM_011511567.1:c.311-16del	XP_011509869.1:n.311-16del
XM_011511568.1:c.365-16del	XP_011509870.1:n.365-16del
XM_017004613.1:c.464-16del	XP_016860102.1:n.464-16del
XM_017004614.1:c.464-16del	XP_016860103.1:n.464-16del
XR_002959322.1:n.555-16del
NM_000465.4:c.365-16del MANE Select	NP_000456.2:n.365-16del
NM_001282543.2:c.308-16del	NP_001269472.1:n.308-16del
NM_001282545.2:c.215+15536del	NP_001269474.1:n.215+15536del
NM_001282548.2:c.158+27887del	NP_001269477.1:n.158+27887del
NM_001282549.2:c.364+10772del	NP_001269478.1:n.364+10772del
NR_104212.2:n.330-16del
NR_104215.2:n.273-16del
NR_104216.2:n.478+10772del