Canonical Allele Identifier: CA350448518

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214767600T>A , CM000664.2:g.214767600T>A	GRCh38
NC_000002.11:g.215632324T>A , CM000664.1:g.215632324T>A	GRCh37
NC_000002.10:g.215340569T>A	NCBI36
NG_012047.2:g.47105A>T
NG_012047.3:g.47112A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1450A>T MANE Select	NP_000456.2:p.Lys484Ter
ENST00000260947.9:c.1450A>T MANE Select	ENSP00000260947.4:p.Lys484Ter
NM_000465.3:c.1450A>T	NP_000456.2:p.Lys484Ter
NM_001282543.1:c.1393A>T	NP_001269472.1:p.Lys465Ter
NM_001282543.2:c.1393A>T	NP_001269472.1:p.Lys465Ter
NM_001282545.1:c.216-15045A>T	NP_001269474.1:n.216-15045A>T
NM_001282545.2:c.216-15045A>T	NP_001269474.1:n.216-15045A>T
NM_001282548.1:c.159-15045A>T	NP_001269477.1:n.159-15045A>T
NM_001282548.2:c.159-15045A>T	NP_001269477.1:n.159-15045A>T
NM_001282549.1:c.364+24697A>T	NP_001269478.1:n.364+24697A>T
NM_001282549.2:c.364+24697A>T	NP_001269478.1:n.364+24697A>T
NR_104212.1:n.1443A>T
NR_104212.2:n.1415A>T
NR_104215.1:n.1386A>T
NR_104215.2:n.1358A>T
NR_104216.1:n.642A>T
NR_104216.2:n.614A>T
ENST00000260947.8:c.1450A>T	ENSP00000260947.4:p.Lys484Ter
ENST00000421162.1:c.216-15045A>T	ENSP00000392245.1:n.216-15045A>T
ENST00000421162.2:c.216-15045A>T	ENSP00000392245.2:n.216-15045A>T
ENST00000455743.5:c.*1070A>T	ENSP00000412186.1:n.*1070A>T
ENST00000613192.1:c.74-37092A>T	ENSP00000483275.1:n.74-37092A>T
ENST00000613192.2:c.159-37092A>T	ENSP00000483275.2:n.159-37092A>T
ENST00000613374.4:c.159-15045A>T	ENSP00000484464.1:n.159-15045A>T
ENST00000613374.5:c.159-15045A>T	ENSP00000484464.1:n.159-15045A>T
ENST00000613706.4:c.216-15045A>T	ENSP00000484976.1:n.216-15045A>T
ENST00000613706.5:c.1042A>T	ENSP00000484976.2:p.Lys348Ter
ENST00000617164.4:c.1393A>T	ENSP00000480470.1:p.Lys465Ter
ENST00000617164.5:c.1393A>T	ENSP00000480470.1:p.Lys465Ter
ENST00000619009.4:c.364+24697A>T	ENSP00000482293.1:n.364+24697A>T
ENST00000619009.5:c.364+24697A>T	ENSP00000482293.1:n.364+24697A>T
ENST00000620057.4:c.*116A>T	ENSP00000481988.1:n.*116A>T
ENST00000650978.1:c.2825A>T
XM_011511567.1:c.1396A>T	XP_011509869.1:p.Lys466Ter
XM_011511568.1:c.1450A>T	XP_011509870.1:p.Lys484Ter
XM_017004613.1:c.1549A>T	XP_016860102.1:p.Lys517Ter
XM_017004614.1:c.1549A>T	XP_016860103.1:p.Lys517Ter
XR_002959322.1:n.1640A>T