Canonical Allele Identifier: CA2662971135

Gene: BARD1

Linked Data

• gnomAD v4: 2-214730638-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730638C>A , CM000664.2:g.214730638C>A	GRCh38
NC_000002.11:g.215595362C>A , CM000664.1:g.215595362C>A	GRCh37
NC_000002.10:g.215303607C>A	NCBI36
NG_012047.2:g.84067G>T
NG_012047.3:g.84074G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1904-130G>T MANE Select	ENSP00000260947.4:n.1904-130G>T
ENST00000421162.2:c.551-130G>T	ENSP00000392245.2:n.551-130G>T
ENST00000613192.2:c.159-130G>T	ENSP00000483275.2:n.159-130G>T
ENST00000613374.5:c.494-130G>T	ENSP00000484464.1:n.494-130G>T
ENST00000613706.5:c.1496-130G>T	ENSP00000484976.2:n.1496-130G>T
ENST00000617164.5:c.1847-130G>T	ENSP00000480470.1:n.1847-130G>T
ENST00000619009.5:c.365-130G>T	ENSP00000482293.1:n.365-130G>T
ENST00000650978.1:c.3279-130G>T
ENST00000260947.8:c.1904-130G>T	ENSP00000260947.4:n.1904-130G>T
ENST00000421162.1:c.551-130G>T	ENSP00000392245.1:n.551-130G>T
ENST00000455743.5:c.*1524-130G>T	ENSP00000412186.1:n.*1524-130G>T
ENST00000471590.5:n.239-130G>T
ENST00000613192.1:c.74-130G>T	ENSP00000483275.1:n.74-130G>T
ENST00000613374.4:c.494-130G>T	ENSP00000484464.1:n.494-130G>T
ENST00000613706.4:c.551-130G>T	ENSP00000484976.1:n.551-130G>T
ENST00000617164.4:c.1847-130G>T	ENSP00000480470.1:n.1847-130G>T
ENST00000619009.4:c.365-130G>T	ENSP00000482293.1:n.365-130G>T
ENST00000620057.4:c.*570-130G>T	ENSP00000481988.1:n.*570-130G>T
NM_000465.3:c.1904-130G>T	NP_000456.2:n.1904-130G>T
NM_001282543.1:c.1847-130G>T	NP_001269472.1:n.1847-130G>T
NM_001282545.1:c.551-130G>T	NP_001269474.1:n.551-130G>T
NM_001282548.1:c.494-130G>T	NP_001269477.1:n.494-130G>T
NM_001282549.1:c.365-130G>T	NP_001269478.1:n.365-130G>T
NR_104212.1:n.1897-130G>T
NR_104215.1:n.1840-130G>T
NR_104216.1:n.1096-130G>T
XM_011511567.1:c.1850-130G>T	XP_011509869.1:n.1850-130G>T
XM_017004613.1:c.2003-130G>T	XP_016860102.1:n.2003-130G>T
XR_002959322.1:n.2094-130G>T
NM_000465.4:c.1904-130G>T MANE Select	NP_000456.2:n.1904-130G>T
NM_001282543.2:c.1847-130G>T	NP_001269472.1:n.1847-130G>T
NM_001282545.2:c.551-130G>T	NP_001269474.1:n.551-130G>T
NM_001282548.2:c.494-130G>T	NP_001269477.1:n.494-130G>T
NM_001282549.2:c.365-130G>T	NP_001269478.1:n.365-130G>T
NR_104212.2:n.1869-130G>T
NR_104215.2:n.1812-130G>T
NR_104216.2:n.1068-130G>T