Canonical Allele Identifier: CA2090413

Gene: BARD1

Linked Data

• dbSNP Id: rs757693125
• ExAC: 2:215646050 AC / A
• gnomAD v2: 2-215646050-AC-A
• gnomAD v4: 2-214781326-AC-A
• MyVariant Identifiers: chr2:g.215646051del (hg19) ; chr2:g.214781327del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781327del , CM000664.2:g.214781327del	GRCh38
NC_000002.11:g.215646051del , CM000664.1:g.215646051del	GRCh37
NC_000002.10:g.215354296del	NCBI36
NG_012047.2:g.33378del
NG_012047.3:g.33385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.547del MANE Select	ENSP00000260947.4:p.Val183PhefsTer29
ENST00000421162.2:c.215+15734del	ENSP00000392245.2:n.215+15734del
ENST00000613192.2:c.158+28085del	ENSP00000483275.2:n.158+28085del
ENST00000613374.5:c.158+28085del	ENSP00000484464.1:n.158+28085del
ENST00000613706.5:c.547del	ENSP00000484976.2:p.Val183PhefsTer29
ENST00000617164.5:c.490del	ENSP00000480470.1:p.Val164PhefsTer29
ENST00000619009.5:c.364+10970del	ENSP00000482293.1:n.364+10970del
ENST00000650978.1:c.389del
ENST00000260947.8:c.547del	ENSP00000260947.4:p.Val183PhefsTer29
ENST00000421162.1:c.215+15734del	ENSP00000392245.1:n.215+15734del
ENST00000455743.5:c.*167del	ENSP00000412186.1:n.*167del
ENST00000471787.1:n.442del
ENST00000613192.1:c.73+28085del	ENSP00000483275.1:n.73+28085del
ENST00000613374.4:c.158+28085del	ENSP00000484464.1:n.158+28085del
ENST00000613706.4:c.215+15734del	ENSP00000484976.1:n.215+15734del
ENST00000617164.4:c.490del	ENSP00000480470.1:p.Val164PhefsTer29
ENST00000619009.4:c.364+10970del	ENSP00000482293.1:n.364+10970del
ENST00000620057.4:c.364+10970del	ENSP00000481988.1:n.364+10970del
NM_000465.3:c.547del	NP_000456.2:p.Val183PhefsTer29
NM_001282543.1:c.490del	NP_001269472.1:p.Val164PhefsTer29
NM_001282545.1:c.215+15734del	NP_001269474.1:n.215+15734del
NM_001282548.1:c.158+28085del	NP_001269477.1:n.158+28085del
NM_001282549.1:c.364+10970del	NP_001269478.1:n.364+10970del
NR_104212.1:n.540del
NR_104215.1:n.483del
NR_104216.1:n.506+10970del
XM_011511567.1:c.493del	XP_011509869.1:p.Val165PhefsTer29
XM_011511568.1:c.547del	XP_011509870.1:p.Val183PhefsTer29
XM_017004613.1:c.646del	XP_016860102.1:p.Val216PhefsTer29
XM_017004614.1:c.646del	XP_016860103.1:p.Val216PhefsTer29
XR_002959322.1:n.737del
NM_000465.4:c.547del MANE Select	NP_000456.2:p.Val183PhefsTer29
NM_001282543.2:c.490del	NP_001269472.1:p.Val164PhefsTer29
NM_001282545.2:c.215+15734del	NP_001269474.1:n.215+15734del
NM_001282548.2:c.158+28085del	NP_001269477.1:n.158+28085del
NM_001282549.2:c.364+10970del	NP_001269478.1:n.364+10970del
NR_104212.2:n.512del
NR_104215.2:n.455del
NR_104216.2:n.478+10970del