Canonical Allele Identifier: CA2662960713

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2777646
• ClinVar RCV Id: RCV003607623
• gnomAD v4: 2-214780544-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780544A>G , CM000664.2:g.214780544A>G	GRCh38
NC_000002.11:g.215645268A>G , CM000664.1:g.215645268A>G	GRCh37
NC_000002.10:g.215353513A>G	NCBI36
NG_012047.2:g.34161T>C
NG_012047.3:g.34168T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1314+16T>C MANE Select	ENSP00000260947.4:n.1314+16T>C
ENST00000421162.2:c.215+16517T>C	ENSP00000392245.2:n.215+16517T>C
ENST00000613192.2:c.158+28868T>C	ENSP00000483275.2:n.158+28868T>C
ENST00000613374.5:c.159-27989T>C	ENSP00000484464.1:n.159-27989T>C
ENST00000613706.5:c.906+424T>C	ENSP00000484976.2:n.906+424T>C
ENST00000617164.5:c.1257+16T>C	ENSP00000480470.1:n.1257+16T>C
ENST00000619009.5:c.364+11753T>C	ENSP00000482293.1:n.364+11753T>C
ENST00000650978.1:c.1156+16T>C
ENST00000260947.8:c.1314+16T>C	ENSP00000260947.4:n.1314+16T>C
ENST00000421162.1:c.215+16517T>C	ENSP00000392245.1:n.215+16517T>C
ENST00000455743.5:c.*934+16T>C	ENSP00000412186.1:n.*934+16T>C
ENST00000613192.1:c.73+28868T>C	ENSP00000483275.1:n.73+28868T>C
ENST00000613374.4:c.159-27989T>C	ENSP00000484464.1:n.159-27989T>C
ENST00000613706.4:c.215+16517T>C	ENSP00000484976.1:n.215+16517T>C
ENST00000617164.4:c.1257+16T>C	ENSP00000480470.1:n.1257+16T>C
ENST00000619009.4:c.364+11753T>C	ENSP00000482293.1:n.364+11753T>C
ENST00000620057.4:c.365-11232T>C	ENSP00000481988.1:n.365-11232T>C
NM_000465.3:c.1314+16T>C	NP_000456.2:n.1314+16T>C
NM_001282543.1:c.1257+16T>C	NP_001269472.1:n.1257+16T>C
NM_001282545.1:c.215+16517T>C	NP_001269474.1:n.215+16517T>C
NM_001282548.1:c.159-27989T>C	NP_001269477.1:n.159-27989T>C
NM_001282549.1:c.364+11753T>C	NP_001269478.1:n.364+11753T>C
NR_104212.1:n.1307+16T>C
NR_104215.1:n.1250+16T>C
NR_104216.1:n.507-11232T>C
XM_011511567.1:c.1260+16T>C	XP_011509869.1:n.1260+16T>C
XM_011511568.1:c.1314+16T>C	XP_011509870.1:n.1314+16T>C
XM_017004613.1:c.1413+16T>C	XP_016860102.1:n.1413+16T>C
XM_017004614.1:c.1413+16T>C	XP_016860103.1:n.1413+16T>C
XR_002959322.1:n.1504+16T>C
NM_000465.4:c.1314+16T>C MANE Select	NP_000456.2:n.1314+16T>C
NM_001282543.2:c.1257+16T>C	NP_001269472.1:n.1257+16T>C
NM_001282545.2:c.215+16517T>C	NP_001269474.1:n.215+16517T>C
NM_001282548.2:c.159-27989T>C	NP_001269477.1:n.159-27989T>C
NM_001282549.2:c.364+11753T>C	NP_001269478.1:n.364+11753T>C
NR_104212.2:n.1279+16T>C
NR_104215.2:n.1222+16T>C
NR_104216.2:n.479-11232T>C