Canonical Allele Identifier: CA2553394567

Gene: BARD1

Linked Data

• gnomAD v4: 2-214780438-A-AAGTATCATG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780439_214780447dup , CM000664.2:g.214780439_214780447dup	GRCh38
NC_000002.11:g.215645163_215645171dup , CM000664.1:g.215645163_215645171dup	GRCh37
NC_000002.10:g.215353408_215353416dup	NCBI36
NG_012047.2:g.34258_34266dup
NG_012047.3:g.34265_34273dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1314+113_1314+121dup MANE Select	ENSP00000260947.4:n.1314+113_1314+121dup
ENST00000421162.2:c.215+16614_215+16622dup	ENSP00000392245.2:n.215+16614_215+16622dup
ENST00000613192.2:c.158+28965_158+28973dup	ENSP00000483275.2:n.158+28965_158+28973dup
ENST00000613374.5:c.159-27892_159-27884dup	ENSP00000484464.1:n.159-27892_159-27884dup
ENST00000613706.5:c.906+521_906+529dup	ENSP00000484976.2:n.906+521_906+529dup
ENST00000617164.5:c.1257+113_1257+121dup	ENSP00000480470.1:n.1257+113_1257+121dup
ENST00000619009.5:c.364+11850_364+11858dup	ENSP00000482293.1:n.364+11850_364+11858dup
ENST00000650978.1:c.1156+113_1156+121dup
ENST00000260947.8:c.1314+113_1314+121dup	ENSP00000260947.4:n.1314+113_1314+121dup
ENST00000421162.1:c.215+16614_215+16622dup	ENSP00000392245.1:n.215+16614_215+16622dup
ENST00000455743.5:c.*934+113_*934+121dup	ENSP00000412186.1:n.*934+113_*934+121dup
ENST00000613192.1:c.73+28965_73+28973dup	ENSP00000483275.1:n.73+28965_73+28973dup
ENST00000613374.4:c.159-27892_159-27884dup	ENSP00000484464.1:n.159-27892_159-27884dup
ENST00000613706.4:c.215+16614_215+16622dup	ENSP00000484976.1:n.215+16614_215+16622dup
ENST00000617164.4:c.1257+113_1257+121dup	ENSP00000480470.1:n.1257+113_1257+121dup
ENST00000619009.4:c.364+11850_364+11858dup	ENSP00000482293.1:n.364+11850_364+11858dup
ENST00000620057.4:c.365-11135_365-11127dup	ENSP00000481988.1:n.365-11135_365-11127dup
NM_000465.3:c.1314+113_1314+121dup	NP_000456.2:n.1314+113_1314+121dup
NM_001282543.1:c.1257+113_1257+121dup	NP_001269472.1:n.1257+113_1257+121dup
NM_001282545.1:c.215+16614_215+16622dup	NP_001269474.1:n.215+16614_215+16622dup
NM_001282548.1:c.159-27892_159-27884dup	NP_001269477.1:n.159-27892_159-27884dup
NM_001282549.1:c.364+11850_364+11858dup	NP_001269478.1:n.364+11850_364+11858dup
NR_104212.1:n.1307+113_1307+121dup
NR_104215.1:n.1250+113_1250+121dup
NR_104216.1:n.507-11135_507-11127dup
XM_011511567.1:c.1260+113_1260+121dup	XP_011509869.1:n.1260+113_1260+121dup
XM_011511568.1:c.1314+113_1314+121dup	XP_011509870.1:n.1314+113_1314+121dup
XM_017004613.1:c.1413+113_1413+121dup	XP_016860102.1:n.1413+113_1413+121dup
XM_017004614.1:c.1413+113_1413+121dup	XP_016860103.1:n.1413+113_1413+121dup
XR_002959322.1:n.1504+113_1504+121dup
NM_000465.4:c.1314+113_1314+121dup MANE Select	NP_000456.2:n.1314+113_1314+121dup
NM_001282543.2:c.1257+113_1257+121dup	NP_001269472.1:n.1257+113_1257+121dup
NM_001282545.2:c.215+16614_215+16622dup	NP_001269474.1:n.215+16614_215+16622dup
NM_001282548.2:c.159-27892_159-27884dup	NP_001269477.1:n.159-27892_159-27884dup
NM_001282549.2:c.364+11850_364+11858dup	NP_001269478.1:n.364+11850_364+11858dup
NR_104212.2:n.1279+113_1279+121dup
NR_104215.2:n.1222+113_1222+121dup
NR_104216.2:n.479-11135_479-11127dup