Canonical Allele Identifier: CA2662970316

Gene: BARD1

Linked Data

• gnomAD v4: 2-214745769-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745770del , CM000664.2:g.214745770del	GRCh38
NC_000002.11:g.215610494del , CM000664.1:g.215610494del	GRCh37
NC_000002.10:g.215318739del	NCBI36
NG_012047.2:g.68935del
NG_012047.3:g.68942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1762del MANE Select	ENSP00000260947.4:p.Ala589GlnfsTer2
ENST00000421162.2:c.409del	ENSP00000392245.2:p.Ala138GlnfsTer2
ENST00000613192.2:c.159-15262del	ENSP00000483275.2:n.159-15262del
ENST00000613374.5:c.352del	ENSP00000484464.1:p.Ala119GlnfsTer2
ENST00000613706.5:c.1354del	ENSP00000484976.2:p.Ala453GlnfsTer2
ENST00000617164.5:c.1705del	ENSP00000480470.1:p.Ala570GlnfsTer2
ENST00000619009.5:c.365-15262del	ENSP00000482293.1:n.365-15262del
ENST00000650978.1:c.3137del
ENST00000260947.8:c.1762del	ENSP00000260947.4:p.Ala589GlnfsTer2
ENST00000421162.1:c.409del	ENSP00000392245.1:p.Ala138GlnfsTer2
ENST00000455743.5:c.*1382del	ENSP00000412186.1:n.*1382del
ENST00000465841.1:n.117del
ENST00000613192.1:c.74-15262del	ENSP00000483275.1:n.74-15262del
ENST00000613374.4:c.352del	ENSP00000484464.1:p.Ala119GlnfsTer2
ENST00000613706.4:c.409del	ENSP00000484976.1:p.Ala138GlnfsTer2
ENST00000617164.4:c.1705del	ENSP00000480470.1:p.Ala570GlnfsTer2
ENST00000619009.4:c.365-15262del	ENSP00000482293.1:n.365-15262del
ENST00000620057.4:c.*428del	ENSP00000481988.1:n.*428del
NM_000465.3:c.1762del	NP_000456.2:p.Ala589GlnfsTer2
NM_001282543.1:c.1705del	NP_001269472.1:p.Ala570GlnfsTer2
NM_001282545.1:c.409del	NP_001269474.1:p.Ala138GlnfsTer2
NM_001282548.1:c.352del	NP_001269477.1:p.Ala119GlnfsTer2
NM_001282549.1:c.365-15262del	NP_001269478.1:n.365-15262del
NR_104212.1:n.1755del
NR_104215.1:n.1698del
NR_104216.1:n.954del
XM_011511567.1:c.1708del	XP_011509869.1:p.Ala571GlnfsTer2
XM_011511568.1:c.1762del	XP_011509870.1:p.Ala589GlnfsTer2
XM_017004613.1:c.1861del	XP_016860102.1:p.Ala622GlnfsTer2
XM_017004614.1:c.1861del	XP_016860103.1:p.Ala622GlnfsTer2
XR_002959322.1:n.1952del
NM_000465.4:c.1762del MANE Select	NP_000456.2:p.Ala589GlnfsTer2
NM_001282543.2:c.1705del	NP_001269472.1:p.Ala570GlnfsTer2
NM_001282545.2:c.409del	NP_001269474.1:p.Ala138GlnfsTer2
NM_001282548.2:c.352del	NP_001269477.1:p.Ala119GlnfsTer2
NM_001282549.2:c.365-15262del	NP_001269478.1:n.365-15262del
NR_104212.2:n.1727del
NR_104215.2:n.1670del
NR_104216.2:n.926del