Canonical Allele Identifier: CA2582342075

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583691
• ClinVar RCV Id: RCV003334613

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728713_214728714dup , CM000664.2:g.214728713_214728714dup	GRCh38
NC_000002.11:g.215593437_215593438dup , CM000664.1:g.215593437_215593438dup	GRCh37
NC_000002.10:g.215301682_215301683dup	NCBI36
NG_012047.2:g.85995_85996dup
NG_012047.3:g.86002_86003dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2300_2301dup MANE Select	ENSP00000260947.4:p.Met768Ter
ENST00000421162.2:c.947_948dup	ENSP00000392245.2:p.Met317Ter
ENST00000613192.2:c.*363_*364dup	ENSP00000483275.2:n.*363_*364dup
ENST00000613374.5:c.890_891dup	ENSP00000484464.1:p.Met298Ter
ENST00000613706.5:c.1892_1893dup	ENSP00000484976.2:p.Met632Ter
ENST00000617164.5:c.2243_2244dup	ENSP00000480470.1:p.Met749Ter
ENST00000619009.5:c.761_762dup	ENSP00000482293.1:p.Met255Ter
ENST00000650978.1:c.3675_3676dup
ENST00000260947.8:c.2300_2301dup	ENSP00000260947.4:p.Met768Ter
ENST00000432456.5:c.443_444dup
ENST00000455743.5:c.*1920_*1921dup	ENSP00000412186.1:n.*1920_*1921dup
ENST00000471590.5:n.635_636dup
ENST00000613192.1:c.470_471dup	ENSP00000483275.1:p.Met158Ter
ENST00000613374.4:c.890_891dup	ENSP00000484464.1:p.Met298Ter
ENST00000613706.4:c.947_948dup	ENSP00000484976.1:p.Met317Ter
ENST00000617164.4:c.2243_2244dup	ENSP00000480470.1:p.Met749Ter
ENST00000619009.4:c.761_762dup	ENSP00000482293.1:p.Met255Ter
ENST00000620057.4:c.*966_*967dup	ENSP00000481988.1:n.*966_*967dup
NM_000465.3:c.2300_2301dup	NP_000456.2:p.Met768Ter
NM_001282543.1:c.2243_2244dup	NP_001269472.1:p.Met749Ter
NM_001282545.1:c.947_948dup	NP_001269474.1:p.Met317Ter
NM_001282548.1:c.890_891dup	NP_001269477.1:p.Met298Ter
NM_001282549.1:c.761_762dup	NP_001269478.1:p.Met255Ter
NR_104212.1:n.2293_2294dup
NR_104215.1:n.2236_2237dup
NR_104216.1:n.1492_1493dup
XM_011511567.1:c.2246_2247dup	XP_011509869.1:p.Met750Ter
XM_017004613.1:c.2399_2400dup	XP_016860102.1:p.Met801Ter
XR_002959322.1:n.2666_2667dup
NM_000465.4:c.2300_2301dup MANE Select	NP_000456.2:p.Met768Ter
NM_001282543.2:c.2243_2244dup	NP_001269472.1:p.Met749Ter
NM_001282545.2:c.947_948dup	NP_001269474.1:p.Met317Ter
NM_001282548.2:c.890_891dup	NP_001269477.1:p.Met298Ter
NM_001282549.2:c.761_762dup	NP_001269478.1:p.Met255Ter
NR_104212.2:n.2265_2266dup
NR_104215.2:n.2208_2209dup
NR_104216.2:n.1464_1465dup