Canonical Allele Identifier: CA1327066215

Gene: BARD1

Linked Data

• dbSNP Id: rs1694453949

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214770931C>G , CM000664.2:g.214770931C>G	GRCh38
NC_000002.11:g.215635655C>G , CM000664.1:g.215635655C>G	GRCh37
NC_000002.10:g.215343900C>G	NCBI36
NG_012047.2:g.43774G>C
NG_012047.3:g.43781G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1315-1619G>C MANE Select	ENSP00000260947.4:n.1315-1619G>C
ENST00000421162.2:c.216-18376G>C	ENSP00000392245.2:n.216-18376G>C
ENST00000613192.2:c.158+38481G>C	ENSP00000483275.2:n.158+38481G>C
ENST00000613374.5:c.159-18376G>C	ENSP00000484464.1:n.159-18376G>C
ENST00000613706.5:c.907-1619G>C	ENSP00000484976.2:n.907-1619G>C
ENST00000617164.5:c.1258-1619G>C	ENSP00000480470.1:n.1258-1619G>C
ENST00000619009.5:c.364+21366G>C	ENSP00000482293.1:n.364+21366G>C
ENST00000650978.1:c.1157-86G>C
ENST00000260947.8:c.1315-1619G>C	ENSP00000260947.4:n.1315-1619G>C
ENST00000421162.1:c.216-18376G>C	ENSP00000392245.1:n.216-18376G>C
ENST00000455743.5:c.*935-1619G>C	ENSP00000412186.1:n.*935-1619G>C
ENST00000613192.1:c.73+38481G>C	ENSP00000483275.1:n.73+38481G>C
ENST00000613374.4:c.159-18376G>C	ENSP00000484464.1:n.159-18376G>C
ENST00000613706.4:c.216-18376G>C	ENSP00000484976.1:n.216-18376G>C
ENST00000617164.4:c.1258-1619G>C	ENSP00000480470.1:n.1258-1619G>C
ENST00000619009.4:c.364+21366G>C	ENSP00000482293.1:n.364+21366G>C
ENST00000620057.4:c.365-1619G>C	ENSP00000481988.1:n.365-1619G>C
NM_000465.3:c.1315-1619G>C	NP_000456.2:n.1315-1619G>C
NM_001282543.1:c.1258-1619G>C	NP_001269472.1:n.1258-1619G>C
NM_001282545.1:c.216-18376G>C	NP_001269474.1:n.216-18376G>C
NM_001282548.1:c.159-18376G>C	NP_001269477.1:n.159-18376G>C
NM_001282549.1:c.364+21366G>C	NP_001269478.1:n.364+21366G>C
NR_104212.1:n.1308-1619G>C
NR_104215.1:n.1251-1619G>C
NR_104216.1:n.507-1619G>C
XM_011511567.1:c.1261-1619G>C	XP_011509869.1:n.1261-1619G>C
XM_011511568.1:c.1315-1619G>C	XP_011509870.1:n.1315-1619G>C
XM_017004613.1:c.1414-1619G>C	XP_016860102.1:n.1414-1619G>C
XM_017004614.1:c.1414-1619G>C	XP_016860103.1:n.1414-1619G>C
XR_002959322.1:n.1505-1619G>C
NM_000465.4:c.1315-1619G>C MANE Select	NP_000456.2:n.1315-1619G>C
NM_001282543.2:c.1258-1619G>C	NP_001269472.1:n.1258-1619G>C
NM_001282545.2:c.216-18376G>C	NP_001269474.1:n.216-18376G>C
NM_001282548.2:c.159-18376G>C	NP_001269477.1:n.159-18376G>C
NM_001282549.2:c.364+21366G>C	NP_001269478.1:n.364+21366G>C
NR_104212.2:n.1280-1619G>C
NR_104215.2:n.1223-1619G>C
NR_104216.2:n.479-1619G>C