Canonical Allele Identifier: CA1042201864

Gene: BARD1

Linked Data

• dbSNP Id: rs1692284767
• gnomAD v3: 2-214730123-C-T
• gnomAD v4: 2-214730123-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730123C>T , CM000664.2:g.214730123C>T	GRCh38
NC_000002.11:g.215594847C>T , CM000664.1:g.215594847C>T	GRCh37
NC_000002.10:g.215303092C>T	NCBI36
NG_012047.2:g.84582G>A
NG_012047.3:g.84589G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2001+288G>A MANE Select	ENSP00000260947.4:n.2001+288G>A
ENST00000421162.2:c.648+288G>A	ENSP00000392245.2:n.648+288G>A
ENST00000613192.2:c.*64+288G>A	ENSP00000483275.2:n.*64+288G>A
ENST00000613374.5:c.591+288G>A	ENSP00000484464.1:n.591+288G>A
ENST00000613706.5:c.1593+288G>A	ENSP00000484976.2:n.1593+288G>A
ENST00000617164.5:c.1944+288G>A	ENSP00000480470.1:n.1944+288G>A
ENST00000619009.5:c.462+288G>A	ENSP00000482293.1:n.462+288G>A
ENST00000650978.1:c.3376+288G>A
ENST00000260947.8:c.2001+288G>A	ENSP00000260947.4:n.2001+288G>A
ENST00000432456.5:c.144+112G>A
ENST00000455743.5:c.*1621+288G>A	ENSP00000412186.1:n.*1621+288G>A
ENST00000471590.5:n.336+288G>A
ENST00000613192.1:c.171+288G>A	ENSP00000483275.1:n.171+288G>A
ENST00000613374.4:c.591+288G>A	ENSP00000484464.1:n.591+288G>A
ENST00000613706.4:c.648+288G>A	ENSP00000484976.1:n.648+288G>A
ENST00000617164.4:c.1944+288G>A	ENSP00000480470.1:n.1944+288G>A
ENST00000619009.4:c.462+288G>A	ENSP00000482293.1:n.462+288G>A
ENST00000620057.4:c.*667+288G>A	ENSP00000481988.1:n.*667+288G>A
NM_000465.3:c.2001+288G>A	NP_000456.2:n.2001+288G>A
NM_001282543.1:c.1944+288G>A	NP_001269472.1:n.1944+288G>A
NM_001282545.1:c.648+288G>A	NP_001269474.1:n.648+288G>A
NM_001282548.1:c.591+288G>A	NP_001269477.1:n.591+288G>A
NM_001282549.1:c.462+288G>A	NP_001269478.1:n.462+288G>A
NR_104212.1:n.1994+288G>A
NR_104215.1:n.1937+288G>A
NR_104216.1:n.1193+288G>A
XM_011511567.1:c.1947+288G>A	XP_011509869.1:n.1947+288G>A
XM_017004613.1:c.2100+288G>A	XP_016860102.1:n.2100+288G>A
XR_002959322.1:n.2367+112G>A
NM_000465.4:c.2001+288G>A MANE Select	NP_000456.2:n.2001+288G>A
NM_001282543.2:c.1944+288G>A	NP_001269472.1:n.1944+288G>A
NM_001282545.2:c.648+288G>A	NP_001269474.1:n.648+288G>A
NM_001282548.2:c.591+288G>A	NP_001269477.1:n.591+288G>A
NM_001282549.2:c.462+288G>A	NP_001269478.1:n.462+288G>A
NR_104212.2:n.1966+288G>A
NR_104215.2:n.1909+288G>A
NR_104216.2:n.1165+288G>A