Canonical Allele Identifier: CA1042189105

Gene: BARD1

Linked Data

• gnomAD v3: 2-214792145-C-CAAAAAAAAAAAA
• gnomAD v4: 2-214792145-C-CAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792145_214792146insAAAAAAAAAAAA , CM000664.2:g.214792145_214792146insAAAAAAAAAAAA	GRCh38
NC_000002.11:g.215656869_215656870insAAAAAAAAAAAA , CM000664.1:g.215656869_215656870insAAAAAAAAAAAA	GRCh37
NC_000002.10:g.215365114_215365115insAAAAAAAAAAAA	NCBI36
NG_012047.2:g.22559_22560insTTTTTTTTTTTT
NG_012047.3:g.22566_22567insTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.364+151_364+152insTTTTTTTTTTTT MANE Select	ENSP00000260947.4:n.364+151_364+152insTTT...
ENST00000421162.2:c.215+4915_215+4916insTTTTTTTTTTTT	ENSP00000392245.2:n.215+4915_215+4916insT...
ENST00000613192.2:c.158+17266_158+17267insTTTTTTTTTTTT	ENSP00000483275.2:n.158+17266_158+17267in...
ENST00000613374.5:c.158+17266_158+17267insTTTTTTTTTTTT	ENSP00000484464.1:n.158+17266_158+17267in...
ENST00000613706.5:c.364+151_364+152insTTTTTTTTTTTT	ENSP00000484976.2:n.364+151_364+152insTTT...
ENST00000617164.5:c.307+151_307+152insTTTTTTTTTTTT	ENSP00000480470.1:n.307+151_307+152insTTT...
ENST00000619009.5:c.364+151_364+152insTTTTTTTTTTTT	ENSP00000482293.1:n.364+151_364+152insTTT...
ENST00000650978.1:c.206+151_206+152insTTTTTTTTTTTT
ENST00000260947.8:c.364+151_364+152insTTTTTTTTTTTT	ENSP00000260947.4:n.364+151_364+152insTTT...
ENST00000421162.1:c.215+4915_215+4916insTTTTTTTTTTTT	ENSP00000392245.1:n.215+4915_215+4916insT...
ENST00000455743.5:c.215+4915_215+4916insTTTTTTTTTTTT	ENSP00000412186.1:n.215+4915_215+4916insT...
ENST00000471787.1:n.260-10637_260-10636insTTTTTTTTTTTT
ENST00000613192.1:c.73+17266_73+17267insTTTTTTTTTTTT	ENSP00000483275.1:n.73+17266_73+17267insT...
ENST00000613374.4:c.158+17266_158+17267insTTTTTTTTTTTT	ENSP00000484464.1:n.158+17266_158+17267in...
ENST00000613706.4:c.215+4915_215+4916insTTTTTTTTTTTT	ENSP00000484976.1:n.215+4915_215+4916insT...
ENST00000617164.4:c.307+151_307+152insTTTTTTTTTTTT	ENSP00000480470.1:n.307+151_307+152insTTT...
ENST00000619009.4:c.364+151_364+152insTTTTTTTTTTTT	ENSP00000482293.1:n.364+151_364+152insTTT...
ENST00000620057.4:c.364+151_364+152insTTTTTTTTTTTT	ENSP00000481988.1:n.364+151_364+152insTTT...
NM_000465.3:c.364+151_364+152insTTTTTTTTTTTT	NP_000456.2:n.364+151_364+152insTTTTTTTTT...
NM_001282543.1:c.307+151_307+152insTTTTTTTTTTTT	NP_001269472.1:n.307+151_307+152insTTTTTT...
NM_001282545.1:c.215+4915_215+4916insTTTTTTTTTTTT	NP_001269474.1:n.215+4915_215+4916insTTTT...
NM_001282548.1:c.158+17266_158+17267insTTTTTTTTTTTT	NP_001269477.1:n.158+17266_158+17267insTT...
NM_001282549.1:c.364+151_364+152insTTTTTTTTTTTT	NP_001269478.1:n.364+151_364+152insTTTTTT...
NR_104212.1:n.357+4915_357+4916insTTTTTTTTTTTT
NR_104215.1:n.301-10637_301-10636insTTTTTTTTTTTT
NR_104216.1:n.506+151_506+152insTTTTTTTTTTTT
XM_011511567.1:c.310+151_310+152insTTTTTTTTTTTT	XP_011509869.1:n.310+151_310+152insTTTTTT...
XM_011511568.1:c.364+151_364+152insTTTTTTTTTTTT	XP_011509870.1:n.364+151_364+152insTTTTTT...
XM_017004613.1:c.463+151_463+152insTTTTTTTTTTTT	XP_016860102.1:n.463+151_463+152insTTTTTT...
XM_017004614.1:c.463+151_463+152insTTTTTTTTTTTT	XP_016860103.1:n.463+151_463+152insTTTTTT...
XR_002959322.1:n.554+151_554+152insTTTTTTTTTTTT
NM_000465.4:c.364+151_364+152insTTTTTTTTTTTT MANE Select	NP_000456.2:n.364+151_364+152insTTTTTTTTT...
NM_001282543.2:c.307+151_307+152insTTTTTTTTTTTT	NP_001269472.1:n.307+151_307+152insTTTTTT...
NM_001282545.2:c.215+4915_215+4916insTTTTTTTTTTTT	NP_001269474.1:n.215+4915_215+4916insTTTT...
NM_001282548.2:c.158+17266_158+17267insTTTTTTTTTTTT	NP_001269477.1:n.158+17266_158+17267insTT...
NM_001282549.2:c.364+151_364+152insTTTTTTTTTTTT	NP_001269478.1:n.364+151_364+152insTTTTTT...
NR_104212.2:n.329+4915_329+4916insTTTTTTTTTTTT
NR_104215.2:n.273-10637_273-10636insTTTTTTTTTTTT
NR_104216.2:n.478+151_478+152insTTTTTTTTTTTT