Canonical Allele Identifier: CA3249309597

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730475_214730477del , CM000664.2:g.214730475_214730477del	GRCh38
NC_000002.11:g.215595199_215595201del , CM000664.1:g.215595199_215595201del	GRCh37
NC_000002.10:g.215303444_215303446del	NCBI36
NG_012047.2:g.84228_84230del
NG_012047.3:g.84235_84237del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1935_1937del MANE Select	NP_000456.2:p.Cys645Ter
ENST00000260947.9:c.1935_1937del MANE Select	ENSP00000260947.4:p.Cys645Ter
NM_000465.3:c.1935_1937del	NP_000456.2:p.Cys645Ter
NM_001282543.1:c.1878_1880del	NP_001269472.1:p.Cys626Ter
NM_001282543.2:c.1878_1880del	NP_001269472.1:p.Cys626Ter
NM_001282545.1:c.582_584del	NP_001269474.1:p.Cys194Ter
NM_001282545.2:c.582_584del	NP_001269474.1:p.Cys194Ter
NM_001282548.1:c.525_527del	NP_001269477.1:p.Cys175Ter
NM_001282548.2:c.525_527del	NP_001269477.1:p.Cys175Ter
NM_001282549.1:c.396_398del	NP_001269478.1:p.Cys132Ter
NM_001282549.2:c.396_398del	NP_001269478.1:p.Cys132Ter
NR_104212.1:n.1928_1930del
NR_104212.2:n.1900_1902del
NR_104215.1:n.1871_1873del
NR_104215.2:n.1843_1845del
NR_104216.1:n.1127_1129del
NR_104216.2:n.1099_1101del
ENST00000260947.8:c.1935_1937del	ENSP00000260947.4:p.Cys645Ter
ENST00000421162.1:c.582_584del	ENSP00000392245.1:p.Cys194Ter
ENST00000421162.2:c.582_584del	ENSP00000392245.2:p.Cys194Ter
ENST00000432456.5:c.32_34del
ENST00000455743.5:c.*1555_*1557del	ENSP00000412186.1:n.*1555_*1557del
ENST00000471590.5:n.270_272del
ENST00000613192.1:c.105_107del	ENSP00000483275.1:p.Cys35Ter
ENST00000613192.2:c.190_192del	ENSP00000483275.2:p.Ter64del
ENST00000613374.4:c.525_527del	ENSP00000484464.1:p.Cys175Ter
ENST00000613374.5:c.525_527del	ENSP00000484464.1:p.Cys175Ter
ENST00000613706.4:c.582_584del	ENSP00000484976.1:p.Cys194Ter
ENST00000613706.5:c.1527_1529del	ENSP00000484976.2:p.Cys509Ter
ENST00000617164.4:c.1878_1880del	ENSP00000480470.1:p.Cys626Ter
ENST00000617164.5:c.1878_1880del	ENSP00000480470.1:p.Cys626Ter
ENST00000619009.4:c.396_398del	ENSP00000482293.1:p.Cys132Ter
ENST00000619009.5:c.396_398del	ENSP00000482293.1:p.Cys132Ter
ENST00000620057.4:c.*601_*603del	ENSP00000481988.1:n.*601_*603del
ENST00000650978.1:c.3310_3312del
XM_011511567.1:c.1881_1883del	XP_011509869.1:p.Cys627Ter
XM_017004613.1:c.2034_2036del	XP_016860102.1:p.Cys678Ter
XR_002959322.1:n.2125_2127del