Canonical Allele Identifier: CA539837322

Gene: BARD1

Linked Data

• dbSNP Id: rs1432906327
• gnomAD v2: 2-215646232-ATCTG-A
• gnomAD v4: 2-214781508-ATCTG-A
• MyVariant Identifiers: chr2:g.215646233_215646236del (hg19) ; chr2:g.214781509_214781512del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781509_214781512del , CM000664.2:g.214781509_214781512del	GRCh38
NC_000002.11:g.215646233_215646236del , CM000664.1:g.215646233_215646236del	GRCh37
NC_000002.10:g.215354478_215354481del	NCBI36
NG_012047.2:g.33193_33196del
NG_012047.3:g.33200_33203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.365-3_365del
ENST00000421162.2:c.215+15549_215+15552del	ENSP00000392245.2:n.215+15549_215+15552del
ENST00000613192.2:c.158+27900_158+27903del	ENSP00000483275.2:n.158+27900_158+27903del
ENST00000613374.5:c.158+27900_158+27903del	ENSP00000484464.1:n.158+27900_158+27903del
ENST00000613706.5:c.365-3_365del
ENST00000617164.5:c.308-3_308del
ENST00000619009.5:c.364+10785_364+10788del	ENSP00000482293.1:n.364+10785_364+10788del
ENST00000650978.1:c.207-3_207del
ENST00000260947.8:c.365-3_365del
ENST00000421162.1:c.215+15549_215+15552del	ENSP00000392245.1:n.215+15549_215+15552del
ENST00000455743.5:c.216-3_216del
ENST00000471787.1:n.260-3_260del
ENST00000613192.1:c.73+27900_73+27903del	ENSP00000483275.1:n.73+27900_73+27903del
ENST00000613374.4:c.158+27900_158+27903del	ENSP00000484464.1:n.158+27900_158+27903del
ENST00000613706.4:c.215+15549_215+15552del	ENSP00000484976.1:n.215+15549_215+15552del
ENST00000617164.4:c.308-3_308del
ENST00000619009.4:c.364+10785_364+10788del	ENSP00000482293.1:n.364+10785_364+10788del
ENST00000620057.4:c.364+10785_364+10788del	ENSP00000481988.1:n.364+10785_364+10788del
NM_000465.3:c.365-3_365del
NM_001282543.1:c.308-3_308del
NM_001282545.1:c.215+15549_215+15552del	NP_001269474.1:n.215+15549_215+15552del
NM_001282548.1:c.158+27900_158+27903del	NP_001269477.1:n.158+27900_158+27903del
NM_001282549.1:c.364+10785_364+10788del	NP_001269478.1:n.364+10785_364+10788del
NR_104212.1:n.358-3_358del
NR_104215.1:n.301-3_301del
NR_104216.1:n.506+10785_506+10788del
XM_011511567.1:c.311-3_311del
XM_011511568.1:c.365-3_365del
XM_017004613.1:c.464-3_464del
XM_017004614.1:c.464-3_464del
XR_002959322.1:n.555-3_555del
NM_000465.4:c.365-3_365del
NM_001282543.2:c.308-3_308del
NM_001282545.2:c.215+15549_215+15552del	NP_001269474.1:n.215+15549_215+15552del
NM_001282548.2:c.158+27900_158+27903del	NP_001269477.1:n.158+27900_158+27903del
NM_001282549.2:c.364+10785_364+10788del	NP_001269478.1:n.364+10785_364+10788del
NR_104212.2:n.330-3_330del
NR_104215.2:n.273-3_273del
NR_104216.2:n.478+10785_478+10788del