Canonical Allele Identifier: CA2662972062

Gene: BARD1

Linked Data

• gnomAD v4: 2-214792371-ATCTTCAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792376_214792383del , CM000664.2:g.214792376_214792383del	GRCh38
NC_000002.11:g.215657100_215657107del , CM000664.1:g.215657100_215657107del	GRCh37
NC_000002.10:g.215365345_215365352del	NCBI36
NG_012047.2:g.22326_22333del
NG_012047.3:g.22333_22340del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.282_289del MANE Select	ENSP00000260947.4:p.Leu95LysfsTer2
ENST00000421162.2:c.215+4682_215+4689del	ENSP00000392245.2:n.215+4682_215+4689del
ENST00000613192.2:c.158+17033_158+17040del	ENSP00000483275.2:n.158+17033_158+17040de...
ENST00000613374.5:c.158+17033_158+17040del	ENSP00000484464.1:n.158+17033_158+17040de...
ENST00000613706.5:c.282_289del	ENSP00000484976.2:p.Leu95LysfsTer2
ENST00000617164.5:c.225_232del	ENSP00000480470.1:p.Leu76LysfsTer2
ENST00000619009.5:c.282_289del	ENSP00000482293.1:p.Leu95LysfsTer2
ENST00000650978.1:c.124_131del
ENST00000260947.8:c.282_289del	ENSP00000260947.4:p.Leu95LysfsTer2
ENST00000421162.1:c.215+4682_215+4689del	ENSP00000392245.1:n.215+4682_215+4689del
ENST00000455743.5:c.215+4682_215+4689del	ENSP00000412186.1:n.215+4682_215+4689del
ENST00000471787.1:n.260-10870_260-10863del
ENST00000613192.1:c.73+17033_73+17040del	ENSP00000483275.1:n.73+17033_73+17040del
ENST00000613374.4:c.158+17033_158+17040del	ENSP00000484464.1:n.158+17033_158+17040de...
ENST00000613706.4:c.215+4682_215+4689del	ENSP00000484976.1:n.215+4682_215+4689del
ENST00000617164.4:c.225_232del	ENSP00000480470.1:p.Leu76LysfsTer2
ENST00000619009.4:c.282_289del	ENSP00000482293.1:p.Leu95LysfsTer2
ENST00000620057.4:c.282_289del	ENSP00000481988.1:p.Leu95LysfsTer2
NM_000465.3:c.282_289del	NP_000456.2:p.Leu95LysfsTer2
NM_001282543.1:c.225_232del	NP_001269472.1:p.Leu76LysfsTer2
NM_001282545.1:c.215+4682_215+4689del	NP_001269474.1:n.215+4682_215+4689del
NM_001282548.1:c.158+17033_158+17040del	NP_001269477.1:n.158+17033_158+17040del
NM_001282549.1:c.282_289del	NP_001269478.1:p.Leu95LysfsTer2
NR_104212.1:n.357+4682_357+4689del
NR_104215.1:n.301-10870_301-10863del
NR_104216.1:n.424_431del
XM_011511567.1:c.228_235del	XP_011509869.1:p.Leu77LysfsTer2
XM_011511568.1:c.282_289del	XP_011509870.1:p.Leu95LysfsTer2
XM_017004613.1:c.381_388del	XP_016860102.1:p.Leu128LysfsTer2
XM_017004614.1:c.381_388del	XP_016860103.1:p.Leu128LysfsTer2
XR_002959322.1:n.472_479del
NM_000465.4:c.282_289del MANE Select	NP_000456.2:p.Leu95LysfsTer2
NM_001282543.2:c.225_232del	NP_001269472.1:p.Leu76LysfsTer2
NM_001282545.2:c.215+4682_215+4689del	NP_001269474.1:n.215+4682_215+4689del
NM_001282548.2:c.158+17033_158+17040del	NP_001269477.1:n.158+17033_158+17040del
NM_001282549.2:c.282_289del	NP_001269478.1:p.Leu95LysfsTer2
NR_104212.2:n.329+4682_329+4689del
NR_104215.2:n.273-10870_273-10863del
NR_104216.2:n.396_403del