Canonical Allele Identifier: CA10577869

Gene: BARD1

Linked Data

• ClinVar Variation Id: 231609
• ClinVar RCV Id: RCV000217082 ; RCV000690533 ; RCV003441795
• dbSNP Id: rs876659262
• gnomAD v2: 2-215674248-A-AGCGGATCCTCGGCTG
• gnomAD v3: 2-214809524-A-AGCGGATCCTCGGCTG
• gnomAD v4: 2-214809524-A-AGCGGATCCTCGGCTG
• MyVariant Identifiers: chr2:g.215674249_215674263dupGCGGATCCTCGGCTG (hg19) ; chr2:g.215674248_215674249insGCGGATCCTCGGCTG (hg19) ; chr2:g.214809525_214809539dupGCGGATCCTCGGCTG (hg38) ; chr2:g.214809524_214809525insGCGGATCCTCGGCTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214809525_214809539dup , CM000664.2:g.214809525_214809539dup	GRCh38
NC_000002.11:g.215674249_215674263dup , CM000664.1:g.215674249_215674263dup	GRCh37
NC_000002.10:g.215382494_215382508dup	NCBI36
NG_012047.2:g.5166_5180dup
NG_012047.3:g.5173_5187dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.31_45dup MANE Select	ENSP00000260947.4:p.Arg15_Ser16insGlnProArgIleArg
ENST00000421162.2:c.31_45dup	ENSP00000392245.2:p.Arg15_Ser16insGlnProArgIleArg
ENST00000613192.2:c.31_45dup	ENSP00000483275.2:p.Arg15_Ser16insGlnProArgIleArg
ENST00000613374.5:c.31_45dup	ENSP00000484464.1:p.Arg15_Ser16insGlnProArgIleArg
ENST00000613706.5:c.31_45dup	ENSP00000484976.2:p.Arg15_Ser16insGlnProArgIleArg
ENST00000617164.5:c.31_45dup	ENSP00000480470.1:p.Arg15_Ser16insGlnProArgIleArg
ENST00000619009.5:c.31_45dup	ENSP00000482293.1:p.Arg15_Ser16insGlnProArgIleArg
ENST00000260947.8:c.31_45dup	ENSP00000260947.4:p.Arg15_Ser16insGlnProArgIleArg
ENST00000421162.1:c.31_45dup	ENSP00000392245.1:p.Arg15_Ser16insGlnProArgIleArg
ENST00000455743.5:c.31_45dup	ENSP00000412186.1:p.Arg15_Ser16insGlnProArgIleArg
ENST00000471787.1:n.132_146dup
ENST00000479904.1:n.122_136dup
ENST00000613192.1:c.-55_-41dup	ENSP00000483275.1:n.-55_-41dup
ENST00000613374.4:c.31_45dup	ENSP00000484464.1:p.Arg15_Ser16insGlnProArgIleArg
ENST00000613706.4:c.31_45dup	ENSP00000484976.1:p.Arg15_Ser16insGlnProArgIleArg
ENST00000617164.4:c.31_45dup	ENSP00000480470.1:p.Arg15_Ser16insGlnProArgIleArg
ENST00000619009.4:c.31_45dup	ENSP00000482293.1:p.Arg15_Ser16insGlnProArgIleArg
ENST00000620057.4:c.31_45dup	ENSP00000481988.1:p.Arg15_Ser16insGlnProArgIleArg
NM_000465.3:c.31_45dup	NP_000456.2:p.Arg15_Ser16insGlnProArgIleArg
NM_001282543.1:c.31_45dup	NP_001269472.1:p.Arg15_Ser16insGlnProArgIleArg
NM_001282545.1:c.31_45dup	NP_001269474.1:p.Arg15_Ser16insGlnProArgIleArg
NM_001282548.1:c.31_45dup	NP_001269477.1:p.Arg15_Ser16insGlnProArgIleArg
NM_001282549.1:c.31_45dup	NP_001269478.1:p.Arg15_Ser16insGlnProArgIleArg
NR_104212.1:n.173_187dup
NR_104215.1:n.173_187dup
NR_104216.1:n.173_187dup
XM_011511568.1:c.31_45dup	XP_011509870.1:p.Arg15_Ser16insGlnProArgIleArg
XM_017004613.1:c.31_45dup	XP_016860102.1:p.Arg15_Ser16insGlnProArgIleArg
XM_017004614.1:c.31_45dup	XP_016860103.1:p.Arg15_Ser16insGlnProArgIleArg
XR_002959322.1:n.122_136dup
NM_000465.4:c.31_45dup MANE Select	NP_000456.2:p.Arg15_Ser16insGlnProArgIleArg
NM_001282543.2:c.31_45dup	NP_001269472.1:p.Arg15_Ser16insGlnProArgIleArg
NM_001282545.2:c.31_45dup	NP_001269474.1:p.Arg15_Ser16insGlnProArgIleArg
NM_001282548.2:c.31_45dup	NP_001269477.1:p.Arg15_Ser16insGlnProArgIleArg
NM_001282549.2:c.31_45dup	NP_001269478.1:p.Arg15_Ser16insGlnProArgIleArg
NR_104212.2:n.145_159dup
NR_104215.2:n.145_159dup
NR_104216.2:n.145_159dup