Canonical Allele Identifier: CA2499215605

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1055665
• ClinVar RCV Id: RCV001364374
• dbSNP Id: rs2105990585

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730443_214730445dup , CM000664.2:g.214730443_214730445dup	GRCh38
NC_000002.11:g.215595167_215595169dup , CM000664.1:g.215595167_215595169dup	GRCh37
NC_000002.10:g.215303412_215303414dup	NCBI36
NG_012047.2:g.84260_84262dup
NG_012047.3:g.84267_84269dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1967_1969dup MANE Select	ENSP00000260947.4:p.Gly656_Pro657insArg
ENST00000421162.2:c.614_616dup	ENSP00000392245.2:p.Gly205_Pro206insArg
ENST00000613192.2:c.*30_*32dup	ENSP00000483275.2:n.*30_*32dup
ENST00000613374.5:c.557_559dup	ENSP00000484464.1:p.Gly186_Pro187insArg
ENST00000613706.5:c.1559_1561dup	ENSP00000484976.2:p.Gly520_Pro521insArg
ENST00000617164.5:c.1910_1912dup	ENSP00000480470.1:p.Gly637_Pro638insArg
ENST00000619009.5:c.428_430dup	ENSP00000482293.1:p.Gly143_Pro144insArg
ENST00000650978.1:c.3342_3344dup
ENST00000260947.8:c.1967_1969dup	ENSP00000260947.4:p.Gly656_Pro657insArg
ENST00000421162.1:c.614_616dup	ENSP00000392245.1:p.Gly205_Pro206insArg
ENST00000432456.5:c.64_66dup
ENST00000455743.5:c.*1587_*1589dup	ENSP00000412186.1:n.*1587_*1589dup
ENST00000471590.5:n.302_304dup
ENST00000613192.1:c.137_139dup	ENSP00000483275.1:p.Gly46_Pro47insArg
ENST00000613374.4:c.557_559dup	ENSP00000484464.1:p.Gly186_Pro187insArg
ENST00000613706.4:c.614_616dup	ENSP00000484976.1:p.Gly205_Pro206insArg
ENST00000617164.4:c.1910_1912dup	ENSP00000480470.1:p.Gly637_Pro638insArg
ENST00000619009.4:c.428_430dup	ENSP00000482293.1:p.Gly143_Pro144insArg
ENST00000620057.4:c.*633_*635dup	ENSP00000481988.1:n.*633_*635dup
NM_000465.3:c.1967_1969dup	NP_000456.2:p.Gly656_Pro657insArg
NM_001282543.1:c.1910_1912dup	NP_001269472.1:p.Gly637_Pro638insArg
NM_001282545.1:c.614_616dup	NP_001269474.1:p.Gly205_Pro206insArg
NM_001282548.1:c.557_559dup	NP_001269477.1:p.Gly186_Pro187insArg
NM_001282549.1:c.428_430dup	NP_001269478.1:p.Gly143_Pro144insArg
NR_104212.1:n.1960_1962dup
NR_104215.1:n.1903_1905dup
NR_104216.1:n.1159_1161dup
XM_011511567.1:c.1913_1915dup	XP_011509869.1:p.Gly638_Pro639insArg
XM_017004613.1:c.2066_2068dup	XP_016860102.1:p.Gly689_Pro690insArg
XR_002959322.1:n.2157_2159dup
NM_000465.4:c.1967_1969dup MANE Select	NP_000456.2:p.Gly656_Pro657insArg
NM_001282543.2:c.1910_1912dup	NP_001269472.1:p.Gly637_Pro638insArg
NM_001282545.2:c.614_616dup	NP_001269474.1:p.Gly205_Pro206insArg
NM_001282548.2:c.557_559dup	NP_001269477.1:p.Gly186_Pro187insArg
NM_001282549.2:c.428_430dup	NP_001269478.1:p.Gly143_Pro144insArg
NR_104212.2:n.1932_1934dup
NR_104215.2:n.1875_1877dup
NR_104216.2:n.1131_1133dup