Canonical Allele Identifier: CA2662970251

Gene: BARD1

Linked Data

• gnomAD v4: 2-214728780-TAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728784_214728785del , CM000664.2:g.214728784_214728785del	GRCh38
NC_000002.11:g.215593508_215593509del , CM000664.1:g.215593508_215593509del	GRCh37
NC_000002.10:g.215301753_215301754del	NCBI36
NG_012047.2:g.85923_85924del
NG_012047.3:g.85930_85931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2228_2229del MANE Select	ENSP00000260947.4:p.Cys743Ter
ENST00000421162.2:c.875_876del	ENSP00000392245.2:p.Cys292Ter
ENST00000613192.2:c.*291_*292del	ENSP00000483275.2:n.*291_*292del
ENST00000613374.5:c.818_819del	ENSP00000484464.1:p.Cys273Ter
ENST00000613706.5:c.1820_1821del	ENSP00000484976.2:p.Cys607Ter
ENST00000617164.5:c.2171_2172del	ENSP00000480470.1:p.Cys724Ter
ENST00000619009.5:c.689_690del	ENSP00000482293.1:p.Cys230Ter
ENST00000650978.1:c.3603_3604del
ENST00000260947.8:c.2228_2229del	ENSP00000260947.4:p.Cys743Ter
ENST00000432456.5:c.371_372del
ENST00000455743.5:c.*1848_*1849del	ENSP00000412186.1:n.*1848_*1849del
ENST00000471590.5:n.563_564del
ENST00000613192.1:c.398_399del	ENSP00000483275.1:p.Cys133Ter
ENST00000613374.4:c.818_819del	ENSP00000484464.1:p.Cys273Ter
ENST00000613706.4:c.875_876del	ENSP00000484976.1:p.Cys292Ter
ENST00000617164.4:c.2171_2172del	ENSP00000480470.1:p.Cys724Ter
ENST00000619009.4:c.689_690del	ENSP00000482293.1:p.Cys230Ter
ENST00000620057.4:c.*894_*895del	ENSP00000481988.1:n.*894_*895del
NM_000465.3:c.2228_2229del	NP_000456.2:p.Cys743Ter
NM_001282543.1:c.2171_2172del	NP_001269472.1:p.Cys724Ter
NM_001282545.1:c.875_876del	NP_001269474.1:p.Cys292Ter
NM_001282548.1:c.818_819del	NP_001269477.1:p.Cys273Ter
NM_001282549.1:c.689_690del	NP_001269478.1:p.Cys230Ter
NR_104212.1:n.2221_2222del
NR_104215.1:n.2164_2165del
NR_104216.1:n.1420_1421del
XM_011511567.1:c.2174_2175del	XP_011509869.1:p.Cys725Ter
XM_017004613.1:c.2327_2328del	XP_016860102.1:p.Cys776Ter
XR_002959322.1:n.2594_2595del
NM_000465.4:c.2228_2229del MANE Select	NP_000456.2:p.Cys743Ter
NM_001282543.2:c.2171_2172del	NP_001269472.1:p.Cys724Ter
NM_001282545.2:c.875_876del	NP_001269474.1:p.Cys292Ter
NM_001282548.2:c.818_819del	NP_001269477.1:p.Cys273Ter
NM_001282549.2:c.689_690del	NP_001269478.1:p.Cys230Ter
NR_104212.2:n.2193_2194del
NR_104215.2:n.2136_2137del
NR_104216.2:n.1392_1393del