Canonical Allele Identifier: CA2662970876

Gene: BARD1

Linked Data

• gnomAD v4: 2-214730157-GAGATTTACCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730163_214730173del , CM000664.2:g.214730163_214730173del	GRCh38
NC_000002.11:g.215594887_215594897del , CM000664.1:g.215594887_215594897del	GRCh37
NC_000002.10:g.215303132_215303142del	NCBI36
NG_012047.2:g.84537_84547del
NG_012047.3:g.84544_84554del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2001+243_2001+253del MANE Select	ENSP00000260947.4:n.2001+243_2001+253del
ENST00000421162.2:c.648+243_648+253del	ENSP00000392245.2:n.648+243_648+253del
ENST00000613192.2:c.*64+243_*64+253del	ENSP00000483275.2:n.*64+243_*64+253del
ENST00000613374.5:c.591+243_591+253del	ENSP00000484464.1:n.591+243_591+253del
ENST00000613706.5:c.1593+243_1593+253del	ENSP00000484976.2:n.1593+243_1593+253del
ENST00000617164.5:c.1944+243_1944+253del	ENSP00000480470.1:n.1944+243_1944+253del
ENST00000619009.5:c.462+243_462+253del	ENSP00000482293.1:n.462+243_462+253del
ENST00000650978.1:c.3376+243_3376+253del
ENST00000260947.8:c.2001+243_2001+253del	ENSP00000260947.4:n.2001+243_2001+253del
ENST00000432456.5:c.144+67_144+77del
ENST00000455743.5:c.*1621+243_*1621+253del	ENSP00000412186.1:n.*1621+243_*1621+253del
ENST00000471590.5:n.336+243_336+253del
ENST00000613192.1:c.171+243_171+253del	ENSP00000483275.1:n.171+243_171+253del
ENST00000613374.4:c.591+243_591+253del	ENSP00000484464.1:n.591+243_591+253del
ENST00000613706.4:c.648+243_648+253del	ENSP00000484976.1:n.648+243_648+253del
ENST00000617164.4:c.1944+243_1944+253del	ENSP00000480470.1:n.1944+243_1944+253del
ENST00000619009.4:c.462+243_462+253del	ENSP00000482293.1:n.462+243_462+253del
ENST00000620057.4:c.*667+243_*667+253del	ENSP00000481988.1:n.*667+243_*667+253del
NM_000465.3:c.2001+243_2001+253del	NP_000456.2:n.2001+243_2001+253del
NM_001282543.1:c.1944+243_1944+253del	NP_001269472.1:n.1944+243_1944+253del
NM_001282545.1:c.648+243_648+253del	NP_001269474.1:n.648+243_648+253del
NM_001282548.1:c.591+243_591+253del	NP_001269477.1:n.591+243_591+253del
NM_001282549.1:c.462+243_462+253del	NP_001269478.1:n.462+243_462+253del
NR_104212.1:n.1994+243_1994+253del
NR_104215.1:n.1937+243_1937+253del
NR_104216.1:n.1193+243_1193+253del
XM_011511567.1:c.1947+243_1947+253del	XP_011509869.1:n.1947+243_1947+253del
XM_017004613.1:c.2100+243_2100+253del	XP_016860102.1:n.2100+243_2100+253del
XR_002959322.1:n.2367+67_2367+77del
NM_000465.4:c.2001+243_2001+253del MANE Select	NP_000456.2:n.2001+243_2001+253del
NM_001282543.2:c.1944+243_1944+253del	NP_001269472.1:n.1944+243_1944+253del
NM_001282545.2:c.648+243_648+253del	NP_001269474.1:n.648+243_648+253del
NM_001282548.2:c.591+243_591+253del	NP_001269477.1:n.591+243_591+253del
NM_001282549.2:c.462+243_462+253del	NP_001269478.1:n.462+243_462+253del
NR_104212.2:n.1966+243_1966+253del
NR_104215.2:n.1909+243_1909+253del
NR_104216.2:n.1165+243_1165+253del