Canonical Allele Identifier: CA3249309850

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730505_214730507del , CM000664.2:g.214730505_214730507del	GRCh38
NC_000002.11:g.215595229_215595231del , CM000664.1:g.215595229_215595231del	GRCh37
NC_000002.10:g.215303474_215303476del	NCBI36
NG_012047.2:g.84198_84200del
NG_012047.3:g.84205_84207del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1905_1907del MANE Select	NP_000456.2:p.Trp635Ter
ENST00000260947.9:c.1905_1907del MANE Select	ENSP00000260947.4:p.Trp635Ter
NM_000465.3:c.1905_1907del	NP_000456.2:p.Trp635Ter
NM_001282543.1:c.1848_1850del	NP_001269472.1:p.Trp616Ter
NM_001282543.2:c.1848_1850del	NP_001269472.1:p.Trp616Ter
NM_001282545.1:c.552_554del	NP_001269474.1:p.Trp184Ter
NM_001282545.2:c.552_554del	NP_001269474.1:p.Trp184Ter
NM_001282548.1:c.495_497del	NP_001269477.1:p.Trp165Ter
NM_001282548.2:c.495_497del	NP_001269477.1:p.Trp165Ter
NM_001282549.1:c.366_368del	NP_001269478.1:p.Val123del
NM_001282549.2:c.366_368del	NP_001269478.1:p.Val123del
NR_104212.1:n.1898_1900del
NR_104212.2:n.1870_1872del
NR_104215.1:n.1841_1843del
NR_104215.2:n.1813_1815del
NR_104216.1:n.1097_1099del
NR_104216.2:n.1069_1071del
ENST00000260947.8:c.1905_1907del	ENSP00000260947.4:p.Trp635Ter
ENST00000421162.1:c.552_554del	ENSP00000392245.1:p.Trp184Ter
ENST00000421162.2:c.552_554del	ENSP00000392245.2:p.Trp184Ter
ENST00000432456.5:c.2_4del
ENST00000455743.5:c.*1525_*1527del	ENSP00000412186.1:n.*1525_*1527del
ENST00000471590.5:n.240_242del
ENST00000613192.1:c.75_77del	ENSP00000483275.1:p.Val26del
ENST00000613192.2:c.160_162del	ENSP00000483275.2:p.Gly54del
ENST00000613374.4:c.495_497del	ENSP00000484464.1:p.Trp165Ter
ENST00000613374.5:c.495_497del	ENSP00000484464.1:p.Trp165Ter
ENST00000613706.4:c.552_554del	ENSP00000484976.1:p.Trp184Ter
ENST00000613706.5:c.1497_1499del	ENSP00000484976.2:p.Trp499Ter
ENST00000617164.4:c.1848_1850del	ENSP00000480470.1:p.Trp616Ter
ENST00000617164.5:c.1848_1850del	ENSP00000480470.1:p.Trp616Ter
ENST00000619009.4:c.366_368del	ENSP00000482293.1:p.Val123del
ENST00000619009.5:c.366_368del	ENSP00000482293.1:p.Val123del
ENST00000620057.4:c.*571_*573del	ENSP00000481988.1:n.*571_*573del
ENST00000650978.1:c.3280_3282del
XM_011511567.1:c.1851_1853del	XP_011509869.1:p.Trp617Ter
XM_017004613.1:c.2004_2006del	XP_016860102.1:p.Trp668Ter
XR_002959322.1:n.2095_2097del