Canonical Allele Identifier: CA1042201901

Gene: BARD1

Linked Data

• dbSNP Id: rs1692289363
• gnomAD v3: 2-214730242-A-ATT
• gnomAD v4: 2-214730242-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730245_214730246dup , CM000664.2:g.214730245_214730246dup	GRCh38
NC_000002.11:g.215594969_215594970dup , CM000664.1:g.215594969_215594970dup	GRCh37
NC_000002.10:g.215303214_215303215dup	NCBI36
NG_012047.2:g.84461_84462dup
NG_012047.3:g.84468_84469dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2001+167_2001+168dup MANE Select	ENSP00000260947.4:n.2001+167_2001+168dup
ENST00000421162.2:c.648+167_648+168dup	ENSP00000392245.2:n.648+167_648+168dup
ENST00000613192.2:c.*64+167_*64+168dup	ENSP00000483275.2:n.*64+167_*64+168dup
ENST00000613374.5:c.591+167_591+168dup	ENSP00000484464.1:n.591+167_591+168dup
ENST00000613706.5:c.1593+167_1593+168dup	ENSP00000484976.2:n.1593+167_1593+168dup
ENST00000617164.5:c.1944+167_1944+168dup	ENSP00000480470.1:n.1944+167_1944+168dup
ENST00000619009.5:c.462+167_462+168dup	ENSP00000482293.1:n.462+167_462+168dup
ENST00000650978.1:c.3376+167_3376+168dup
ENST00000260947.8:c.2001+167_2001+168dup	ENSP00000260947.4:n.2001+167_2001+168dup
ENST00000432456.5:c.135_136dup
ENST00000455743.5:c.*1621+167_*1621+168dup	ENSP00000412186.1:n.*1621+167_*1621+168dup
ENST00000471590.5:n.336+167_336+168dup
ENST00000613192.1:c.171+167_171+168dup	ENSP00000483275.1:n.171+167_171+168dup
ENST00000613374.4:c.591+167_591+168dup	ENSP00000484464.1:n.591+167_591+168dup
ENST00000613706.4:c.648+167_648+168dup	ENSP00000484976.1:n.648+167_648+168dup
ENST00000617164.4:c.1944+167_1944+168dup	ENSP00000480470.1:n.1944+167_1944+168dup
ENST00000619009.4:c.462+167_462+168dup	ENSP00000482293.1:n.462+167_462+168dup
ENST00000620057.4:c.*667+167_*667+168dup	ENSP00000481988.1:n.*667+167_*667+168dup
NM_000465.3:c.2001+167_2001+168dup	NP_000456.2:n.2001+167_2001+168dup
NM_001282543.1:c.1944+167_1944+168dup	NP_001269472.1:n.1944+167_1944+168dup
NM_001282545.1:c.648+167_648+168dup	NP_001269474.1:n.648+167_648+168dup
NM_001282548.1:c.591+167_591+168dup	NP_001269477.1:n.591+167_591+168dup
NM_001282549.1:c.462+167_462+168dup	NP_001269478.1:n.462+167_462+168dup
NR_104212.1:n.1994+167_1994+168dup
NR_104215.1:n.1937+167_1937+168dup
NR_104216.1:n.1193+167_1193+168dup
XM_011511567.1:c.1947+167_1947+168dup	XP_011509869.1:n.1947+167_1947+168dup
XM_017004613.1:c.2100+167_2100+168dup	XP_016860102.1:n.2100+167_2100+168dup
XR_002959322.1:n.2358_2359dup
NM_000465.4:c.2001+167_2001+168dup MANE Select	NP_000456.2:n.2001+167_2001+168dup
NM_001282543.2:c.1944+167_1944+168dup	NP_001269472.1:n.1944+167_1944+168dup
NM_001282545.2:c.648+167_648+168dup	NP_001269474.1:n.648+167_648+168dup
NM_001282548.2:c.591+167_591+168dup	NP_001269477.1:n.591+167_591+168dup
NM_001282549.2:c.462+167_462+168dup	NP_001269478.1:n.462+167_462+168dup
NR_104212.2:n.1966+167_1966+168dup
NR_104215.2:n.1909+167_1909+168dup
NR_104216.2:n.1165+167_1165+168dup