Canonical Allele Identifier: CA350448218

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214767519T>A , CM000664.2:g.214767519T>A	GRCh38
NC_000002.11:g.215632243T>A , CM000664.1:g.215632243T>A	GRCh37
NC_000002.10:g.215340488T>A	NCBI36
NG_012047.2:g.47186A>T
NG_012047.3:g.47193A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1531A>T MANE Select	NP_000456.2:p.Lys511Ter
ENST00000260947.9:c.1531A>T MANE Select	ENSP00000260947.4:p.Lys511Ter
NM_000465.3:c.1531A>T	NP_000456.2:p.Lys511Ter
NM_001282543.1:c.1474A>T	NP_001269472.1:p.Lys492Ter
NM_001282543.2:c.1474A>T	NP_001269472.1:p.Lys492Ter
NM_001282545.1:c.216-14964A>T	NP_001269474.1:n.216-14964A>T
NM_001282545.2:c.216-14964A>T	NP_001269474.1:n.216-14964A>T
NM_001282548.1:c.159-14964A>T	NP_001269477.1:n.159-14964A>T
NM_001282548.2:c.159-14964A>T	NP_001269477.1:n.159-14964A>T
NM_001282549.1:c.364+24778A>T	NP_001269478.1:n.364+24778A>T
NM_001282549.2:c.364+24778A>T	NP_001269478.1:n.364+24778A>T
NR_104212.1:n.1524A>T
NR_104212.2:n.1496A>T
NR_104215.1:n.1467A>T
NR_104215.2:n.1439A>T
NR_104216.1:n.723A>T
NR_104216.2:n.695A>T
ENST00000260947.8:c.1531A>T	ENSP00000260947.4:p.Lys511Ter
ENST00000421162.1:c.216-14964A>T	ENSP00000392245.1:n.216-14964A>T
ENST00000421162.2:c.216-14964A>T	ENSP00000392245.2:n.216-14964A>T
ENST00000455743.5:c.*1151A>T	ENSP00000412186.1:n.*1151A>T
ENST00000613192.1:c.74-37011A>T	ENSP00000483275.1:n.74-37011A>T
ENST00000613192.2:c.159-37011A>T	ENSP00000483275.2:n.159-37011A>T
ENST00000613374.4:c.159-14964A>T	ENSP00000484464.1:n.159-14964A>T
ENST00000613374.5:c.159-14964A>T	ENSP00000484464.1:n.159-14964A>T
ENST00000613706.4:c.216-14964A>T	ENSP00000484976.1:n.216-14964A>T
ENST00000613706.5:c.1123A>T	ENSP00000484976.2:p.Lys375Ter
ENST00000617164.4:c.1474A>T	ENSP00000480470.1:p.Lys492Ter
ENST00000617164.5:c.1474A>T	ENSP00000480470.1:p.Lys492Ter
ENST00000619009.4:c.364+24778A>T	ENSP00000482293.1:n.364+24778A>T
ENST00000619009.5:c.364+24778A>T	ENSP00000482293.1:n.364+24778A>T
ENST00000620057.4:c.*197A>T	ENSP00000481988.1:n.*197A>T
ENST00000650978.1:c.2906A>T
XM_011511567.1:c.1477A>T	XP_011509869.1:p.Lys493Ter
XM_011511568.1:c.1531A>T	XP_011509870.1:p.Lys511Ter
XM_017004613.1:c.1630A>T	XP_016860102.1:p.Lys544Ter
XM_017004614.1:c.1630A>T	XP_016860103.1:p.Lys544Ter
XR_002959322.1:n.1721A>T