Canonical Allele Identifier: CA1327045443

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728693G= , CM000664.2:g.214728693G=	GRCh38
NC_000002.11:g.215593417G= , CM000664.1:g.215593417G=	GRCh37
NC_000002.10:g.215301662G=	NCBI36
NG_012047.2:g.86012C=
NG_012047.3:g.86019C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2317C= MANE Select	ENSP00000260947.4:p.Leu773=
ENST00000421162.2:c.964C=	ENSP00000392245.2:p.Leu322=
ENST00000613192.2:c.*380C=	ENSP00000483275.2:n.*380C=
ENST00000613374.5:c.907C=	ENSP00000484464.1:p.Leu303=
ENST00000613706.5:c.1909C=	ENSP00000484976.2:p.Leu637=
ENST00000617164.5:c.2260C=	ENSP00000480470.1:p.Leu754=
ENST00000619009.5:c.778C=	ENSP00000482293.1:p.Leu260=
ENST00000650978.1:c.3692C=
ENST00000260947.8:c.2317C=	ENSP00000260947.4:p.Leu773=
ENST00000432456.5:c.460C=
ENST00000471590.5:n.652C=
ENST00000613192.1:c.487C=	ENSP00000483275.1:p.Leu163=
ENST00000613374.4:c.907C=	ENSP00000484464.1:p.Leu303=
ENST00000613706.4:c.964C=	ENSP00000484976.1:p.Leu322=
ENST00000617164.4:c.2260C=	ENSP00000480470.1:p.Leu754=
ENST00000619009.4:c.778C=	ENSP00000482293.1:p.Leu260=
ENST00000620057.4:c.*983C=	ENSP00000481988.1:n.*983C=
NM_000465.3:c.2317C=	NP_000456.2:p.Leu773=
NM_001282543.1:c.2260C=	NP_001269472.1:p.Leu754=
NM_001282545.1:c.964C=	NP_001269474.1:p.Leu322=
NM_001282548.1:c.907C=	NP_001269477.1:p.Leu303=
NM_001282549.1:c.778C=	NP_001269478.1:p.Leu260=
NR_104212.1:n.2310C=
NR_104215.1:n.2253C=
NR_104216.1:n.1509C=
XM_011511567.1:c.2263C=	XP_011509869.1:p.Leu755=
XM_017004613.1:c.2416C=	XP_016860102.1:p.Leu806=
XR_002959322.1:n.2683C=
NM_000465.4:c.2317C= MANE Select	NP_000456.2:p.Leu773=
NM_001282543.2:c.2260C=	NP_001269472.1:p.Leu754=
NM_001282545.2:c.964C=	NP_001269474.1:p.Leu322=
NM_001282548.2:c.907C=	NP_001269477.1:p.Leu303=
NM_001282549.2:c.778C=	NP_001269478.1:p.Leu260=
NR_104212.2:n.2282C=
NR_104215.2:n.2225C=
NR_104216.2:n.1481C=