Canonical Allele Identifier: CA350450053

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214769233A>T , CM000664.2:g.214769233A>T	GRCh38
NC_000002.11:g.215633957A>T , CM000664.1:g.215633957A>T	GRCh37
NC_000002.10:g.215342202A>T	NCBI36
NG_012047.2:g.45472T>A
NG_012047.3:g.45479T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1394T>A MANE Select	NP_000456.2:p.Leu465Ter
ENST00000260947.9:c.1394T>A MANE Select	ENSP00000260947.4:p.Leu465Ter
NM_000465.3:c.1394T>A	NP_000456.2:p.Leu465Ter
NM_001282543.1:c.1337T>A	NP_001269472.1:p.Leu446Ter
NM_001282543.2:c.1337T>A	NP_001269472.1:p.Leu446Ter
NM_001282545.1:c.216-16678T>A	NP_001269474.1:n.216-16678T>A
NM_001282545.2:c.216-16678T>A	NP_001269474.1:n.216-16678T>A
NM_001282548.1:c.159-16678T>A	NP_001269477.1:n.159-16678T>A
NM_001282548.2:c.159-16678T>A	NP_001269477.1:n.159-16678T>A
NM_001282549.1:c.364+23064T>A	NP_001269478.1:n.364+23064T>A
NM_001282549.2:c.364+23064T>A	NP_001269478.1:n.364+23064T>A
NR_104212.1:n.1387T>A
NR_104212.2:n.1359T>A
NR_104215.1:n.1330T>A
NR_104215.2:n.1302T>A
NR_104216.1:n.586T>A
NR_104216.2:n.558T>A
ENST00000260947.8:c.1394T>A	ENSP00000260947.4:p.Leu465Ter
ENST00000421162.1:c.216-16678T>A	ENSP00000392245.1:n.216-16678T>A
ENST00000421162.2:c.216-16678T>A	ENSP00000392245.2:n.216-16678T>A
ENST00000455743.5:c.*1014T>A	ENSP00000412186.1:n.*1014T>A
ENST00000613192.1:c.74-38725T>A	ENSP00000483275.1:n.74-38725T>A
ENST00000613192.2:c.159-38725T>A	ENSP00000483275.2:n.159-38725T>A
ENST00000613374.4:c.159-16678T>A	ENSP00000484464.1:n.159-16678T>A
ENST00000613374.5:c.159-16678T>A	ENSP00000484464.1:n.159-16678T>A
ENST00000613706.4:c.216-16678T>A	ENSP00000484976.1:n.216-16678T>A
ENST00000613706.5:c.986T>A	ENSP00000484976.2:p.Leu329Ter
ENST00000617164.4:c.1337T>A	ENSP00000480470.1:p.Leu446Ter
ENST00000617164.5:c.1337T>A	ENSP00000480470.1:p.Leu446Ter
ENST00000619009.4:c.364+23064T>A	ENSP00000482293.1:n.364+23064T>A
ENST00000619009.5:c.364+23064T>A	ENSP00000482293.1:n.364+23064T>A
ENST00000620057.4:c.*60T>A	ENSP00000481988.1:n.*60T>A
ENST00000650978.1:c.2769T>A
XM_011511567.1:c.1340T>A	XP_011509869.1:p.Leu447Ter
XM_011511568.1:c.1394T>A	XP_011509870.1:p.Leu465Ter
XM_017004613.1:c.1493T>A	XP_016860102.1:p.Leu498Ter
XM_017004614.1:c.1493T>A	XP_016860103.1:p.Leu498Ter
XR_002959322.1:n.1584T>A