Canonical Allele Identifier: CA2573135120

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1494861
• ClinVar RCV Id: RCV001989630
• dbSNP Id: rs2106134415

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792296_214792298del , CM000664.2:g.214792296_214792298del	GRCh38
NC_000002.11:g.215657020_215657022del , CM000664.1:g.215657020_215657022del	GRCh37
NC_000002.10:g.215365265_215365267del	NCBI36
NG_012047.2:g.22407_22409del
NG_012047.3:g.22414_22416del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.363_364+1del
ENST00000421162.2:c.215+4763_215+4765del	ENSP00000392245.2:n.215+4763_215+4765del
ENST00000613192.2:c.158+17114_158+17116del	ENSP00000483275.2:n.158+17114_158+17116del
ENST00000613374.5:c.158+17114_158+17116del	ENSP00000484464.1:n.158+17114_158+17116del
ENST00000613706.5:c.363_364+1del
ENST00000617164.5:c.306_307+1del
ENST00000619009.5:c.363_364+1del
ENST00000650978.1:c.205_206+1del
ENST00000260947.8:c.363_364+1del
ENST00000421162.1:c.215+4763_215+4765del	ENSP00000392245.1:n.215+4763_215+4765del
ENST00000455743.5:c.215+4763_215+4765del	ENSP00000412186.1:n.215+4763_215+4765del
ENST00000471787.1:n.260-10789_260-10787del
ENST00000613192.1:c.73+17114_73+17116del	ENSP00000483275.1:n.73+17114_73+17116del
ENST00000613374.4:c.158+17114_158+17116del	ENSP00000484464.1:n.158+17114_158+17116del
ENST00000613706.4:c.215+4763_215+4765del	ENSP00000484976.1:n.215+4763_215+4765del
ENST00000617164.4:c.306_307+1del
ENST00000619009.4:c.363_364+1del
ENST00000620057.4:c.363_364+1del
NM_000465.3:c.363_364+1del
NM_001282543.1:c.306_307+1del
NM_001282545.1:c.215+4763_215+4765del	NP_001269474.1:n.215+4763_215+4765del
NM_001282548.1:c.158+17114_158+17116del	NP_001269477.1:n.158+17114_158+17116del
NM_001282549.1:c.363_364+1del
NR_104212.1:n.357+4763_357+4765del
NR_104215.1:n.301-10789_301-10787del
NR_104216.1:n.505_506+1del
XM_011511567.1:c.309_310+1del
XM_011511568.1:c.363_364+1del
XM_017004613.1:c.462_463+1del
XM_017004614.1:c.462_463+1del
XR_002959322.1:n.553_554+1del
NM_000465.4:c.363_364+1del
NM_001282543.2:c.306_307+1del
NM_001282545.2:c.215+4763_215+4765del	NP_001269474.1:n.215+4763_215+4765del
NM_001282548.2:c.158+17114_158+17116del	NP_001269477.1:n.158+17114_158+17116del
NM_001282549.2:c.363_364+1del
NR_104212.2:n.329+4763_329+4765del
NR_104215.2:n.273-10789_273-10787del
NR_104216.2:n.477_478+1del