Canonical Allele Identifier: CA3249309603

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730476_214730478del , CM000664.2:g.214730476_214730478del	GRCh38
NC_000002.11:g.215595200_215595202del , CM000664.1:g.215595200_215595202del	GRCh37
NC_000002.10:g.215303445_215303447del	NCBI36
NG_012047.2:g.84227_84229del
NG_012047.3:g.84234_84236del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1934_1936del MANE Select	NP_000456.2:p.Cys645Ter
ENST00000260947.9:c.1934_1936del MANE Select	ENSP00000260947.4:p.Cys645Ter
NM_000465.3:c.1934_1936del	NP_000456.2:p.Cys645Ter
NM_001282543.1:c.1877_1879del	NP_001269472.1:p.Cys626Ter
NM_001282543.2:c.1877_1879del	NP_001269472.1:p.Cys626Ter
NM_001282545.1:c.581_583del	NP_001269474.1:p.Cys194Ter
NM_001282545.2:c.581_583del	NP_001269474.1:p.Cys194Ter
NM_001282548.1:c.524_526del	NP_001269477.1:p.Cys175Ter
NM_001282548.2:c.524_526del	NP_001269477.1:p.Cys175Ter
NM_001282549.1:c.395_397del	NP_001269478.1:p.Cys132Ter
NM_001282549.2:c.395_397del	NP_001269478.1:p.Cys132Ter
NR_104212.1:n.1927_1929del
NR_104212.2:n.1899_1901del
NR_104215.1:n.1870_1872del
NR_104215.2:n.1842_1844del
NR_104216.1:n.1126_1128del
NR_104216.2:n.1098_1100del
ENST00000260947.8:c.1934_1936del	ENSP00000260947.4:p.Cys645Ter
ENST00000421162.1:c.581_583del	ENSP00000392245.1:p.Cys194Ter
ENST00000421162.2:c.581_583del	ENSP00000392245.2:p.Cys194Ter
ENST00000432456.5:c.31_33del
ENST00000455743.5:c.*1554_*1556del	ENSP00000412186.1:n.*1554_*1556del
ENST00000471590.5:n.269_271del
ENST00000613192.1:c.104_106del	ENSP00000483275.1:p.Cys35Ter
ENST00000613192.2:c.189_191del	ENSP00000483275.2:p.Met63_Ter64delinsIle
ENST00000613374.4:c.524_526del	ENSP00000484464.1:p.Cys175Ter
ENST00000613374.5:c.524_526del	ENSP00000484464.1:p.Cys175Ter
ENST00000613706.4:c.581_583del	ENSP00000484976.1:p.Cys194Ter
ENST00000613706.5:c.1526_1528del	ENSP00000484976.2:p.Cys509Ter
ENST00000617164.4:c.1877_1879del	ENSP00000480470.1:p.Cys626Ter
ENST00000617164.5:c.1877_1879del	ENSP00000480470.1:p.Cys626Ter
ENST00000619009.4:c.395_397del	ENSP00000482293.1:p.Cys132Ter
ENST00000619009.5:c.395_397del	ENSP00000482293.1:p.Cys132Ter
ENST00000620057.4:c.*600_*602del	ENSP00000481988.1:n.*600_*602del
ENST00000650978.1:c.3309_3311del
XM_011511567.1:c.1880_1882del	XP_011509869.1:p.Cys627Ter
XM_017004613.1:c.2033_2035del	XP_016860102.1:p.Cys678Ter
XR_002959322.1:n.2124_2126del