Canonical Allele Identifier: CA2697550340

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2752678
• ClinVar RCV Id: RCV003500049

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780820_214780821delinsGG , CM000664.2:g.214780820_214780821delinsGG	GRCh38
NC_000002.11:g.215645544_215645545delinsGG , CM000664.1:g.215645544_215645545delinsGG	GRCh37
NC_000002.10:g.215353789_215353790delinsGG	NCBI36
NG_012047.2:g.33884_33885delinsCC
NG_012047.3:g.33891_33892delinsCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1053_1054delinsCC MANE Select	ENSP00000260947.4:p.Val352Leu
ENST00000421162.2:c.215+16240_215+16241delinsCC	ENSP00000392245.2:n.215+16240_215+16241de...
ENST00000613192.2:c.158+28591_158+28592delinsCC	ENSP00000483275.2:n.158+28591_158+28592de...
ENST00000613374.5:c.159-28266_159-28265delinsCC	ENSP00000484464.1:n.159-28266_159-28265de...
ENST00000613706.5:c.906+147_906+148delinsCC	ENSP00000484976.2:n.906+147_906+148delins...
ENST00000617164.5:c.996_997delinsCC	ENSP00000480470.1:p.Val333Leu
ENST00000619009.5:c.364+11476_364+11477delinsCC	ENSP00000482293.1:n.364+11476_364+11477de...
ENST00000650978.1:c.895_896delinsCC
ENST00000260947.8:c.1053_1054delinsCC	ENSP00000260947.4:p.Val352Leu
ENST00000421162.1:c.215+16240_215+16241delinsCC	ENSP00000392245.1:n.215+16240_215+16241de...
ENST00000455743.5:c.*673_*674delinsCC	ENSP00000412186.1:n.*673_*674delinsCC
ENST00000613192.1:c.73+28591_73+28592delinsCC	ENSP00000483275.1:n.73+28591_73+28592deli...
ENST00000613374.4:c.159-28266_159-28265delinsCC	ENSP00000484464.1:n.159-28266_159-28265de...
ENST00000613706.4:c.215+16240_215+16241delinsCC	ENSP00000484976.1:n.215+16240_215+16241de...
ENST00000617164.4:c.996_997delinsCC	ENSP00000480470.1:p.Val333Leu
ENST00000619009.4:c.364+11476_364+11477delinsCC	ENSP00000482293.1:n.364+11476_364+11477de...
ENST00000620057.4:c.364+11476_364+11477delinsCC	ENSP00000481988.1:n.364+11476_364+11477de...
NM_000465.3:c.1053_1054delinsCC	NP_000456.2:p.Val352Leu
NM_001282543.1:c.996_997delinsCC	NP_001269472.1:p.Val333Leu
NM_001282545.1:c.215+16240_215+16241delinsCC	NP_001269474.1:n.215+16240_215+16241delin...
NM_001282548.1:c.159-28266_159-28265delinsCC	NP_001269477.1:n.159-28266_159-28265delin...
NM_001282549.1:c.364+11476_364+11477delinsCC	NP_001269478.1:n.364+11476_364+11477delin...
NR_104212.1:n.1046_1047delinsCC
NR_104215.1:n.989_990delinsCC
NR_104216.1:n.506+11476_506+11477delinsCC
XM_011511567.1:c.999_1000delinsCC	XP_011509869.1:p.Val334Leu
XM_011511568.1:c.1053_1054delinsCC	XP_011509870.1:p.Val352Leu
XM_017004613.1:c.1152_1153delinsCC	XP_016860102.1:p.Val385Leu
XM_017004614.1:c.1152_1153delinsCC	XP_016860103.1:p.Val385Leu
XR_002959322.1:n.1243_1244delinsCC
NM_000465.4:c.1053_1054delinsCC MANE Select	NP_000456.2:p.Val352Leu
NM_001282543.2:c.996_997delinsCC	NP_001269472.1:p.Val333Leu
NM_001282545.2:c.215+16240_215+16241delinsCC	NP_001269474.1:n.215+16240_215+16241delin...
NM_001282548.2:c.159-28266_159-28265delinsCC	NP_001269477.1:n.159-28266_159-28265delin...
NM_001282549.2:c.364+11476_364+11477delinsCC	NP_001269478.1:n.364+11476_364+11477delin...
NR_104212.2:n.1018_1019delinsCC
NR_104215.2:n.961_962delinsCC
NR_104216.2:n.478+11476_478+11477delinsCC