Canonical Allele Identifier: CA891842519

Gene: BARD1

Linked Data

• ClinVar Variation Id: 581641
• ClinVar RCV Id: RCV000705530
• dbSNP Id: rs1559373773
• MyVariant Identifiers: chr2:g.215595129_215595132del (hg19) ; chr2:g.214730405_214730408del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730406_214730409del , CM000664.2:g.214730406_214730409del	GRCh38
NC_000002.11:g.215595130_215595133del , CM000664.1:g.215595130_215595133del	GRCh37
NC_000002.10:g.215303375_215303378del	NCBI36
NG_012047.2:g.84297_84300del
NG_012047.3:g.84304_84307del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2001+3_2001+6del MANE Select	ENSP00000260947.4:n.2001+3_2001+6del
ENST00000421162.2:c.648+3_648+6del	ENSP00000392245.2:n.648+3_648+6del
ENST00000613192.2:c.*64+3_*64+6del	ENSP00000483275.2:n.*64+3_*64+6del
ENST00000613374.5:c.591+3_591+6del	ENSP00000484464.1:n.591+3_591+6del
ENST00000613706.5:c.1593+3_1593+6del	ENSP00000484976.2:n.1593+3_1593+6del
ENST00000617164.5:c.1944+3_1944+6del	ENSP00000480470.1:n.1944+3_1944+6del
ENST00000619009.5:c.462+3_462+6del	ENSP00000482293.1:n.462+3_462+6del
ENST00000650978.1:c.3376+3_3376+6del
ENST00000260947.8:c.2001+3_2001+6del	ENSP00000260947.4:n.2001+3_2001+6del
ENST00000432456.5:c.98+3_98+6del
ENST00000455743.5:c.*1621+3_*1621+6del	ENSP00000412186.1:n.*1621+3_*1621+6del
ENST00000471590.5:n.336+3_336+6del
ENST00000613192.1:c.171+3_171+6del	ENSP00000483275.1:n.171+3_171+6del
ENST00000613374.4:c.591+3_591+6del	ENSP00000484464.1:n.591+3_591+6del
ENST00000613706.4:c.648+3_648+6del	ENSP00000484976.1:n.648+3_648+6del
ENST00000617164.4:c.1944+3_1944+6del	ENSP00000480470.1:n.1944+3_1944+6del
ENST00000619009.4:c.462+3_462+6del	ENSP00000482293.1:n.462+3_462+6del
ENST00000620057.4:c.*667+3_*667+6del	ENSP00000481988.1:n.*667+3_*667+6del
NM_000465.3:c.2001+3_2001+6del	NP_000456.2:n.2001+3_2001+6del
NM_001282543.1:c.1944+3_1944+6del	NP_001269472.1:n.1944+3_1944+6del
NM_001282545.1:c.648+3_648+6del	NP_001269474.1:n.648+3_648+6del
NM_001282548.1:c.591+3_591+6del	NP_001269477.1:n.591+3_591+6del
NM_001282549.1:c.462+3_462+6del	NP_001269478.1:n.462+3_462+6del
NR_104212.1:n.1994+3_1994+6del
NR_104215.1:n.1937+3_1937+6del
NR_104216.1:n.1193+3_1193+6del
XM_011511567.1:c.1947+3_1947+6del	XP_011509869.1:n.1947+3_1947+6del
XM_017004613.1:c.2100+3_2100+6del	XP_016860102.1:n.2100+3_2100+6del
XR_002959322.1:n.2194_2197del
NM_000465.4:c.2001+3_2001+6del MANE Select	NP_000456.2:n.2001+3_2001+6del
NM_001282543.2:c.1944+3_1944+6del	NP_001269472.1:n.1944+3_1944+6del
NM_001282545.2:c.648+3_648+6del	NP_001269474.1:n.648+3_648+6del
NM_001282548.2:c.591+3_591+6del	NP_001269477.1:n.591+3_591+6del
NM_001282549.2:c.462+3_462+6del	NP_001269478.1:n.462+3_462+6del
NR_104212.2:n.1966+3_1966+6del
NR_104215.2:n.1909+3_1909+6del
NR_104216.2:n.1165+3_1165+6del