Canonical Allele Identifier: CA913188269

Gene: BARD1

Linked Data

• ClinVar Variation Id: 630685
• ClinVar RCV Id: RCV000776644
• dbSNP Id: rs1559386355
• gnomAD v4: 2-214745179-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745180dup , CM000664.2:g.214745180dup	GRCh38
NC_000002.11:g.215609904dup , CM000664.1:g.215609904dup	GRCh37
NC_000002.10:g.215318149dup	NCBI36
NG_012047.2:g.69525dup
NG_012047.3:g.69532dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1811-21dup MANE Select	ENSP00000260947.4:n.1811-21dup
ENST00000421162.2:c.458-21dup	ENSP00000392245.2:n.458-21dup
ENST00000613192.2:c.159-14672dup	ENSP00000483275.2:n.159-14672dup
ENST00000613374.5:c.401-21dup	ENSP00000484464.1:n.401-21dup
ENST00000613706.5:c.1403-21dup	ENSP00000484976.2:n.1403-21dup
ENST00000617164.5:c.1754-21dup	ENSP00000480470.1:n.1754-21dup
ENST00000619009.5:c.365-14672dup	ENSP00000482293.1:n.365-14672dup
ENST00000650978.1:c.3186-21dup
ENST00000260947.8:c.1811-21dup	ENSP00000260947.4:n.1811-21dup
ENST00000421162.1:c.458-21dup	ENSP00000392245.1:n.458-21dup
ENST00000455743.5:c.*1431-21dup	ENSP00000412186.1:n.*1431-21dup
ENST00000613192.1:c.74-14672dup	ENSP00000483275.1:n.74-14672dup
ENST00000613374.4:c.401-21dup	ENSP00000484464.1:n.401-21dup
ENST00000613706.4:c.458-21dup	ENSP00000484976.1:n.458-21dup
ENST00000617164.4:c.1754-21dup	ENSP00000480470.1:n.1754-21dup
ENST00000619009.4:c.365-14672dup	ENSP00000482293.1:n.365-14672dup
ENST00000620057.4:c.*477-21dup	ENSP00000481988.1:n.*477-21dup
NM_000465.3:c.1811-21dup	NP_000456.2:n.1811-21dup
NM_001282543.1:c.1754-21dup	NP_001269472.1:n.1754-21dup
NM_001282545.1:c.458-21dup	NP_001269474.1:n.458-21dup
NM_001282548.1:c.401-21dup	NP_001269477.1:n.401-21dup
NM_001282549.1:c.365-14672dup	NP_001269478.1:n.365-14672dup
NR_104212.1:n.1804-21dup
NR_104215.1:n.1747-21dup
NR_104216.1:n.1003-21dup
XM_011511567.1:c.1757-21dup	XP_011509869.1:n.1757-21dup
XM_011511568.1:c.1811-21dup	XP_011509870.1:n.1811-21dup
XM_017004613.1:c.1910-21dup	XP_016860102.1:n.1910-21dup
XM_017004614.1:c.1910-21dup	XP_016860103.1:n.1910-21dup
XR_002959322.1:n.2001-21dup
NM_000465.4:c.1811-21dup MANE Select	NP_000456.2:n.1811-21dup
NM_001282543.2:c.1754-21dup	NP_001269472.1:n.1754-21dup
NM_001282545.2:c.458-21dup	NP_001269474.1:n.458-21dup
NM_001282548.2:c.401-21dup	NP_001269477.1:n.401-21dup
NM_001282549.2:c.365-14672dup	NP_001269478.1:n.365-14672dup
NR_104212.2:n.1776-21dup
NR_104215.2:n.1719-21dup
NR_104216.2:n.975-21dup