Canonical Allele Identifier: CA350457783

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781436C>T , CM000664.2:g.214781436C>T	GRCh38
NC_000002.11:g.215646160C>T , CM000664.1:g.215646160C>T	GRCh37
NC_000002.10:g.215354405C>T	NCBI36
NG_012047.2:g.33269G>A
NG_012047.3:g.33276G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.438G>A MANE Select	NP_000456.2:p.Trp146Ter
ENST00000260947.9:c.438G>A MANE Select	ENSP00000260947.4:p.Trp146Ter
NM_000465.3:c.438G>A	NP_000456.2:p.Trp146Ter
NM_001282543.1:c.381G>A	NP_001269472.1:p.Trp127Ter
NM_001282543.2:c.381G>A	NP_001269472.1:p.Trp127Ter
NM_001282545.1:c.215+15625G>A	NP_001269474.1:n.215+15625G>A
NM_001282545.2:c.215+15625G>A	NP_001269474.1:n.215+15625G>A
NM_001282548.1:c.158+27976G>A	NP_001269477.1:n.158+27976G>A
NM_001282548.2:c.158+27976G>A	NP_001269477.1:n.158+27976G>A
NM_001282549.1:c.364+10861G>A	NP_001269478.1:n.364+10861G>A
NM_001282549.2:c.364+10861G>A	NP_001269478.1:n.364+10861G>A
NR_104212.1:n.431G>A
NR_104212.2:n.403G>A
NR_104215.1:n.374G>A
NR_104215.2:n.346G>A
NR_104216.1:n.506+10861G>A
NR_104216.2:n.478+10861G>A
ENST00000260947.8:c.438G>A	ENSP00000260947.4:p.Trp146Ter
ENST00000421162.1:c.215+15625G>A	ENSP00000392245.1:n.215+15625G>A
ENST00000421162.2:c.215+15625G>A	ENSP00000392245.2:n.215+15625G>A
ENST00000455743.5:c.*58G>A	ENSP00000412186.1:n.*58G>A
ENST00000471787.1:n.333G>A
ENST00000613192.1:c.73+27976G>A	ENSP00000483275.1:n.73+27976G>A
ENST00000613192.2:c.158+27976G>A	ENSP00000483275.2:n.158+27976G>A
ENST00000613374.4:c.158+27976G>A	ENSP00000484464.1:n.158+27976G>A
ENST00000613374.5:c.158+27976G>A	ENSP00000484464.1:n.158+27976G>A
ENST00000613706.4:c.215+15625G>A	ENSP00000484976.1:n.215+15625G>A
ENST00000613706.5:c.438G>A	ENSP00000484976.2:p.Trp146Ter
ENST00000617164.4:c.381G>A	ENSP00000480470.1:p.Trp127Ter
ENST00000617164.5:c.381G>A	ENSP00000480470.1:p.Trp127Ter
ENST00000619009.4:c.364+10861G>A	ENSP00000482293.1:n.364+10861G>A
ENST00000619009.5:c.364+10861G>A	ENSP00000482293.1:n.364+10861G>A
ENST00000620057.4:c.364+10861G>A	ENSP00000481988.1:n.364+10861G>A
ENST00000650978.1:c.280G>A
XM_011511567.1:c.384G>A	XP_011509869.1:p.Trp128Ter
XM_011511568.1:c.438G>A	XP_011509870.1:p.Trp146Ter
XM_017004613.1:c.537G>A	XP_016860102.1:p.Trp179Ter
XM_017004614.1:c.537G>A	XP_016860103.1:p.Trp179Ter
XR_002959322.1:n.628G>A