Canonical Allele Identifier: CA2586965590

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2679922
• ClinVar RCV Id: RCV003464985

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781029_214781031dup , CM000664.2:g.214781029_214781031dup	GRCh38
NC_000002.11:g.215645753_215645755dup , CM000664.1:g.215645753_215645755dup	GRCh37
NC_000002.10:g.215353998_215354000dup	NCBI36
NG_012047.2:g.33674_33676dup
NG_012047.3:g.33681_33683dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.843_845dup MANE Select	ENSP00000260947.4:p.Leu282_Ala283insLeu
ENST00000421162.2:c.215+16030_215+16032dup	ENSP00000392245.2:n.215+16030_215+16032du...
ENST00000613192.2:c.158+28381_158+28383dup	ENSP00000483275.2:n.158+28381_158+28383du...
ENST00000613374.5:c.158+28381_158+28383dup	ENSP00000484464.1:n.158+28381_158+28383du...
ENST00000613706.5:c.843_845dup	ENSP00000484976.2:p.Leu282_Ala283insLeu
ENST00000617164.5:c.786_788dup	ENSP00000480470.1:p.Leu263_Ala264insLeu
ENST00000619009.5:c.364+11266_364+11268dup	ENSP00000482293.1:n.364+11266_364+11268du...
ENST00000650978.1:c.685_687dup
ENST00000260947.8:c.843_845dup	ENSP00000260947.4:p.Leu282_Ala283insLeu
ENST00000421162.1:c.215+16030_215+16032dup	ENSP00000392245.1:n.215+16030_215+16032du...
ENST00000455743.5:c.*463_*465dup	ENSP00000412186.1:n.*463_*465dup
ENST00000471787.1:n.738_740dup
ENST00000613192.1:c.73+28381_73+28383dup	ENSP00000483275.1:n.73+28381_73+28383dup
ENST00000613374.4:c.158+28381_158+28383dup	ENSP00000484464.1:n.158+28381_158+28383du...
ENST00000613706.4:c.215+16030_215+16032dup	ENSP00000484976.1:n.215+16030_215+16032du...
ENST00000617164.4:c.786_788dup	ENSP00000480470.1:p.Leu263_Ala264insLeu
ENST00000619009.4:c.364+11266_364+11268dup	ENSP00000482293.1:n.364+11266_364+11268du...
ENST00000620057.4:c.364+11266_364+11268dup	ENSP00000481988.1:n.364+11266_364+11268du...
NM_000465.3:c.843_845dup	NP_000456.2:p.Leu282_Ala283insLeu
NM_001282543.1:c.786_788dup	NP_001269472.1:p.Leu263_Ala264insLeu
NM_001282545.1:c.215+16030_215+16032dup	NP_001269474.1:n.215+16030_215+16032dup
NM_001282548.1:c.158+28381_158+28383dup	NP_001269477.1:n.158+28381_158+28383dup
NM_001282549.1:c.364+11266_364+11268dup	NP_001269478.1:n.364+11266_364+11268dup
NR_104212.1:n.836_838dup
NR_104215.1:n.779_781dup
NR_104216.1:n.506+11266_506+11268dup
XM_011511567.1:c.789_791dup	XP_011509869.1:p.Leu264_Ala265insLeu
XM_011511568.1:c.843_845dup	XP_011509870.1:p.Leu282_Ala283insLeu
XM_017004613.1:c.942_944dup	XP_016860102.1:p.Leu315_Ala316insLeu
XM_017004614.1:c.942_944dup	XP_016860103.1:p.Leu315_Ala316insLeu
XR_002959322.1:n.1033_1035dup
NM_000465.4:c.843_845dup MANE Select	NP_000456.2:p.Leu282_Ala283insLeu
NM_001282543.2:c.786_788dup	NP_001269472.1:p.Leu263_Ala264insLeu
NM_001282545.2:c.215+16030_215+16032dup	NP_001269474.1:n.215+16030_215+16032dup
NM_001282548.2:c.158+28381_158+28383dup	NP_001269477.1:n.158+28381_158+28383dup
NM_001282549.2:c.364+11266_364+11268dup	NP_001269478.1:n.364+11266_364+11268dup
NR_104212.2:n.808_810dup
NR_104215.2:n.751_753dup
NR_104216.2:n.478+11266_478+11268dup