Canonical Allele Identifier: CA1327045558

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728829A= , CM000664.2:g.214728829A=	GRCh38
NC_000002.11:g.215593553A= , CM000664.1:g.215593553A=	GRCh37
NC_000002.10:g.215301798A=	NCBI36
NG_012047.2:g.85876T=
NG_012047.3:g.85883T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2181T= MANE Select	ENSP00000260947.4:p.Asp727=
ENST00000421162.2:c.828T=	ENSP00000392245.2:p.Asp276=
ENST00000613192.2:c.*244T=	ENSP00000483275.2:n.*244T=
ENST00000613374.5:c.771T=	ENSP00000484464.1:p.Asp257=
ENST00000613706.5:c.1773T=	ENSP00000484976.2:p.Asp591=
ENST00000617164.5:c.2124T=	ENSP00000480470.1:p.Asp708=
ENST00000619009.5:c.642T=	ENSP00000482293.1:p.Asp214=
ENST00000650978.1:c.3556T=
ENST00000260947.8:c.2181T=	ENSP00000260947.4:p.Asp727=
ENST00000432456.5:c.324T=
ENST00000455743.5:c.*1801T=	ENSP00000412186.1:n.*1801T=
ENST00000471590.5:n.516T=
ENST00000613192.1:c.351T=	ENSP00000483275.1:p.Asp117=
ENST00000613374.4:c.771T=	ENSP00000484464.1:p.Asp257=
ENST00000613706.4:c.828T=	ENSP00000484976.1:p.Asp276=
ENST00000617164.4:c.2124T=	ENSP00000480470.1:p.Asp708=
ENST00000619009.4:c.642T=	ENSP00000482293.1:p.Asp214=
ENST00000620057.4:c.*847T=	ENSP00000481988.1:n.*847T=
NM_000465.3:c.2181T=	NP_000456.2:p.Asp727=
NM_001282543.1:c.2124T=	NP_001269472.1:p.Asp708=
NM_001282545.1:c.828T=	NP_001269474.1:p.Asp276=
NM_001282548.1:c.771T=	NP_001269477.1:p.Asp257=
NM_001282549.1:c.642T=	NP_001269478.1:p.Asp214=
NR_104212.1:n.2174T=
NR_104215.1:n.2117T=
NR_104216.1:n.1373T=
XM_011511567.1:c.2127T=	XP_011509869.1:p.Asp709=
XM_017004613.1:c.2280T=	XP_016860102.1:p.Asp760=
XR_002959322.1:n.2547T=
NM_000465.4:c.2181T= MANE Select	NP_000456.2:p.Asp727=
NM_001282543.2:c.2124T=	NP_001269472.1:p.Asp708=
NM_001282545.2:c.828T=	NP_001269474.1:p.Asp276=
NM_001282548.2:c.771T=	NP_001269477.1:p.Asp257=
NM_001282549.2:c.642T=	NP_001269478.1:p.Asp214=
NR_104212.2:n.2146T=
NR_104215.2:n.2089T=
NR_104216.2:n.1345T=