Canonical Allele Identifier: CA2580065588

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1801601
• ClinVar RCV Id: RCV003164636 ; RCV003336757

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745066del , CM000664.2:g.214745066del	GRCh38
NC_000002.11:g.215609790del , CM000664.1:g.215609790del	GRCh37
NC_000002.10:g.215318035del	NCBI36
NG_012047.2:g.69639del
NG_012047.3:g.69646del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1903+1del MANE Select	ENSP00000260947.4:n.1903+1del
ENST00000421162.2:c.550+1del	ENSP00000392245.2:n.550+1del
ENST00000613192.2:c.159-14558del	ENSP00000483275.2:n.159-14558del
ENST00000613374.5:c.493+1del	ENSP00000484464.1:n.493+1del
ENST00000613706.5:c.1495+1del	ENSP00000484976.2:n.1495+1del
ENST00000617164.5:c.1846+1del	ENSP00000480470.1:n.1846+1del
ENST00000619009.5:c.365-14558del	ENSP00000482293.1:n.365-14558del
ENST00000650978.1:c.3278+1del
ENST00000260947.8:c.1903+1del	ENSP00000260947.4:n.1903+1del
ENST00000421162.1:c.550+1del	ENSP00000392245.1:n.550+1del
ENST00000455743.5:c.*1523+1del	ENSP00000412186.1:n.*1523+1del
ENST00000613192.1:c.74-14558del	ENSP00000483275.1:n.74-14558del
ENST00000613374.4:c.493+1del	ENSP00000484464.1:n.493+1del
ENST00000613706.4:c.550+1del	ENSP00000484976.1:n.550+1del
ENST00000617164.4:c.1846+1del	ENSP00000480470.1:n.1846+1del
ENST00000619009.4:c.365-14558del	ENSP00000482293.1:n.365-14558del
ENST00000620057.4:c.*569+1del	ENSP00000481988.1:n.*569+1del
NM_000465.3:c.1903+1del	NP_000456.2:n.1903+1del
NM_001282543.1:c.1846+1del	NP_001269472.1:n.1846+1del
NM_001282545.1:c.550+1del	NP_001269474.1:n.550+1del
NM_001282548.1:c.493+1del	NP_001269477.1:n.493+1del
NM_001282549.1:c.365-14558del	NP_001269478.1:n.365-14558del
NR_104212.1:n.1896+1del
NR_104215.1:n.1839+1del
NR_104216.1:n.1095+1del
XM_011511567.1:c.1849+1del	XP_011509869.1:n.1849+1del
XM_011511568.1:c.1903+1del	XP_011509870.1:n.1903+1del
XM_017004613.1:c.2002+1del	XP_016860102.1:n.2002+1del
XM_017004614.1:c.2002+1del	XP_016860103.1:n.2002+1del
XR_002959322.1:n.2093+1del
NM_000465.4:c.1903+1del MANE Select	NP_000456.2:n.1903+1del
NM_001282543.2:c.1846+1del	NP_001269472.1:n.1846+1del
NM_001282545.2:c.550+1del	NP_001269474.1:n.550+1del
NM_001282548.2:c.493+1del	NP_001269477.1:n.493+1del
NM_001282549.2:c.365-14558del	NP_001269478.1:n.365-14558del
NR_104212.2:n.1868+1del
NR_104215.2:n.1811+1del
NR_104216.2:n.1067+1del