Canonical Allele Identifier: CA2662970997

Gene: BARD1

Linked Data

• gnomAD v4: 2-214730355-GATA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730362_214730364del , CM000664.2:g.214730362_214730364del	GRCh38
NC_000002.11:g.215595086_215595088del , CM000664.1:g.215595086_215595088del	GRCh37
NC_000002.10:g.215303331_215303333del	NCBI36
NG_012047.2:g.84347_84349del
NG_012047.3:g.84354_84356del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2001+53_2001+55del MANE Select	ENSP00000260947.4:n.2001+53_2001+55del
ENST00000421162.2:c.648+53_648+55del	ENSP00000392245.2:n.648+53_648+55del
ENST00000613192.2:c.*64+53_*64+55del	ENSP00000483275.2:n.*64+53_*64+55del
ENST00000613374.5:c.591+53_591+55del	ENSP00000484464.1:n.591+53_591+55del
ENST00000613706.5:c.1593+53_1593+55del	ENSP00000484976.2:n.1593+53_1593+55del
ENST00000617164.5:c.1944+53_1944+55del	ENSP00000480470.1:n.1944+53_1944+55del
ENST00000619009.5:c.462+53_462+55del	ENSP00000482293.1:n.462+53_462+55del
ENST00000650978.1:c.3376+53_3376+55del
ENST00000260947.8:c.2001+53_2001+55del	ENSP00000260947.4:n.2001+53_2001+55del
ENST00000432456.5:c.98+53_98+55del
ENST00000455743.5:c.*1621+53_*1621+55del	ENSP00000412186.1:n.*1621+53_*1621+55del
ENST00000471590.5:n.336+53_336+55del
ENST00000613192.1:c.171+53_171+55del	ENSP00000483275.1:n.171+53_171+55del
ENST00000613374.4:c.591+53_591+55del	ENSP00000484464.1:n.591+53_591+55del
ENST00000613706.4:c.648+53_648+55del	ENSP00000484976.1:n.648+53_648+55del
ENST00000617164.4:c.1944+53_1944+55del	ENSP00000480470.1:n.1944+53_1944+55del
ENST00000619009.4:c.462+53_462+55del	ENSP00000482293.1:n.462+53_462+55del
ENST00000620057.4:c.*667+53_*667+55del	ENSP00000481988.1:n.*667+53_*667+55del
NM_000465.3:c.2001+53_2001+55del	NP_000456.2:n.2001+53_2001+55del
NM_001282543.1:c.1944+53_1944+55del	NP_001269472.1:n.1944+53_1944+55del
NM_001282545.1:c.648+53_648+55del	NP_001269474.1:n.648+53_648+55del
NM_001282548.1:c.591+53_591+55del	NP_001269477.1:n.591+53_591+55del
NM_001282549.1:c.462+53_462+55del	NP_001269478.1:n.462+53_462+55del
NR_104212.1:n.1994+53_1994+55del
NR_104215.1:n.1937+53_1937+55del
NR_104216.1:n.1193+53_1193+55del
XM_011511567.1:c.1947+53_1947+55del	XP_011509869.1:n.1947+53_1947+55del
XM_017004613.1:c.2100+53_2100+55del	XP_016860102.1:n.2100+53_2100+55del
XR_002959322.1:n.2244_2246del
NM_000465.4:c.2001+53_2001+55del MANE Select	NP_000456.2:n.2001+53_2001+55del
NM_001282543.2:c.1944+53_1944+55del	NP_001269472.1:n.1944+53_1944+55del
NM_001282545.2:c.648+53_648+55del	NP_001269474.1:n.648+53_648+55del
NM_001282548.2:c.591+53_591+55del	NP_001269477.1:n.591+53_591+55del
NM_001282549.2:c.462+53_462+55del	NP_001269478.1:n.462+53_462+55del
NR_104212.2:n.1966+53_1966+55del
NR_104215.2:n.1909+53_1909+55del
NR_104216.2:n.1165+53_1165+55del