Canonical Allele Identifier: CA2662970199

Gene: BARD1

Linked Data

• gnomAD v4: 2-214745668-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745668G>T , CM000664.2:g.214745668G>T	GRCh38
NC_000002.11:g.215610392G>T , CM000664.1:g.215610392G>T	GRCh37
NC_000002.10:g.215318637G>T	NCBI36
NG_012047.2:g.69037C>A
NG_012047.3:g.69044C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1810+54C>A MANE Select	ENSP00000260947.4:n.1810+54C>A
ENST00000421162.2:c.457+54C>A	ENSP00000392245.2:n.457+54C>A
ENST00000613192.2:c.159-15160C>A	ENSP00000483275.2:n.159-15160C>A
ENST00000613374.5:c.400+54C>A	ENSP00000484464.1:n.400+54C>A
ENST00000613706.5:c.1402+54C>A	ENSP00000484976.2:n.1402+54C>A
ENST00000617164.5:c.1753+54C>A	ENSP00000480470.1:n.1753+54C>A
ENST00000619009.5:c.365-15160C>A	ENSP00000482293.1:n.365-15160C>A
ENST00000650978.1:c.3185+54C>A
ENST00000260947.8:c.1810+54C>A	ENSP00000260947.4:n.1810+54C>A
ENST00000421162.1:c.457+54C>A	ENSP00000392245.1:n.457+54C>A
ENST00000455743.5:c.*1430+54C>A	ENSP00000412186.1:n.*1430+54C>A
ENST00000613192.1:c.74-15160C>A	ENSP00000483275.1:n.74-15160C>A
ENST00000613374.4:c.400+54C>A	ENSP00000484464.1:n.400+54C>A
ENST00000613706.4:c.457+54C>A	ENSP00000484976.1:n.457+54C>A
ENST00000617164.4:c.1753+54C>A	ENSP00000480470.1:n.1753+54C>A
ENST00000619009.4:c.365-15160C>A	ENSP00000482293.1:n.365-15160C>A
ENST00000620057.4:c.*476+54C>A	ENSP00000481988.1:n.*476+54C>A
NM_000465.3:c.1810+54C>A	NP_000456.2:n.1810+54C>A
NM_001282543.1:c.1753+54C>A	NP_001269472.1:n.1753+54C>A
NM_001282545.1:c.457+54C>A	NP_001269474.1:n.457+54C>A
NM_001282548.1:c.400+54C>A	NP_001269477.1:n.400+54C>A
NM_001282549.1:c.365-15160C>A	NP_001269478.1:n.365-15160C>A
NR_104212.1:n.1803+54C>A
NR_104215.1:n.1746+54C>A
NR_104216.1:n.1002+54C>A
XM_011511567.1:c.1756+54C>A	XP_011509869.1:n.1756+54C>A
XM_011511568.1:c.1810+54C>A	XP_011509870.1:n.1810+54C>A
XM_017004613.1:c.1909+54C>A	XP_016860102.1:n.1909+54C>A
XM_017004614.1:c.1909+54C>A	XP_016860103.1:n.1909+54C>A
XR_002959322.1:n.2000+54C>A
NM_000465.4:c.1810+54C>A MANE Select	NP_000456.2:n.1810+54C>A
NM_001282543.2:c.1753+54C>A	NP_001269472.1:n.1753+54C>A
NM_001282545.2:c.457+54C>A	NP_001269474.1:n.457+54C>A
NM_001282548.2:c.400+54C>A	NP_001269477.1:n.400+54C>A
NM_001282549.2:c.365-15160C>A	NP_001269478.1:n.365-15160C>A
NR_104212.2:n.1775+54C>A
NR_104215.2:n.1718+54C>A
NR_104216.2:n.974+54C>A