Canonical Allele Identifier: CA2582342086

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583397
• ClinVar RCV Id: RCV003337068 ; RCV003340678

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780583_214780584del , CM000664.2:g.214780583_214780584del	GRCh38
NC_000002.11:g.215645307_215645308del , CM000664.1:g.215645307_215645308del	GRCh37
NC_000002.10:g.215353552_215353553del	NCBI36
NG_012047.2:g.34122_34123del
NG_012047.3:g.34129_34130del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1291_1292del MANE Select	ENSP00000260947.4:p.Leu431AlafsTer7
ENST00000421162.2:c.215+16478_215+16479del	ENSP00000392245.2:n.215+16478_215+16479del
ENST00000613192.2:c.158+28829_158+28830del	ENSP00000483275.2:n.158+28829_158+28830del
ENST00000613374.5:c.159-28028_159-28027del	ENSP00000484464.1:n.159-28028_159-28027del
ENST00000613706.5:c.906+385_906+386del	ENSP00000484976.2:n.906+385_906+386del
ENST00000617164.5:c.1234_1235del	ENSP00000480470.1:p.Leu412AlafsTer7
ENST00000619009.5:c.364+11714_364+11715del	ENSP00000482293.1:n.364+11714_364+11715del
ENST00000650978.1:c.1133_1134del
ENST00000260947.8:c.1291_1292del	ENSP00000260947.4:p.Leu431AlafsTer7
ENST00000421162.1:c.215+16478_215+16479del	ENSP00000392245.1:n.215+16478_215+16479del
ENST00000455743.5:c.*911_*912del	ENSP00000412186.1:n.*911_*912del
ENST00000613192.1:c.73+28829_73+28830del	ENSP00000483275.1:n.73+28829_73+28830del
ENST00000613374.4:c.159-28028_159-28027del	ENSP00000484464.1:n.159-28028_159-28027del
ENST00000613706.4:c.215+16478_215+16479del	ENSP00000484976.1:n.215+16478_215+16479del
ENST00000617164.4:c.1234_1235del	ENSP00000480470.1:p.Leu412AlafsTer7
ENST00000619009.4:c.364+11714_364+11715del	ENSP00000482293.1:n.364+11714_364+11715del
ENST00000620057.4:c.365-11271_365-11270del	ENSP00000481988.1:n.365-11271_365-11270del
NM_000465.3:c.1291_1292del	NP_000456.2:p.Leu431AlafsTer7
NM_001282543.1:c.1234_1235del	NP_001269472.1:p.Leu412AlafsTer7
NM_001282545.1:c.215+16478_215+16479del	NP_001269474.1:n.215+16478_215+16479del
NM_001282548.1:c.159-28028_159-28027del	NP_001269477.1:n.159-28028_159-28027del
NM_001282549.1:c.364+11714_364+11715del	NP_001269478.1:n.364+11714_364+11715del
NR_104212.1:n.1284_1285del
NR_104215.1:n.1227_1228del
NR_104216.1:n.507-11271_507-11270del
XM_011511567.1:c.1237_1238del	XP_011509869.1:p.Leu413AlafsTer7
XM_011511568.1:c.1291_1292del	XP_011509870.1:p.Leu431AlafsTer7
XM_017004613.1:c.1390_1391del	XP_016860102.1:p.Leu464AlafsTer7
XM_017004614.1:c.1390_1391del	XP_016860103.1:p.Leu464AlafsTer7
XR_002959322.1:n.1481_1482del
NM_000465.4:c.1291_1292del MANE Select	NP_000456.2:p.Leu431AlafsTer7
NM_001282543.2:c.1234_1235del	NP_001269472.1:p.Leu412AlafsTer7
NM_001282545.2:c.215+16478_215+16479del	NP_001269474.1:n.215+16478_215+16479del
NM_001282548.2:c.159-28028_159-28027del	NP_001269477.1:n.159-28028_159-28027del
NM_001282549.2:c.364+11714_364+11715del	NP_001269478.1:n.364+11714_364+11715del
NR_104212.2:n.1256_1257del
NR_104215.2:n.1199_1200del
NR_104216.2:n.479-11271_479-11270del