Canonical Allele Identifier: CA1327046345

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1005828
• ClinVar RCV Id: RCV001302773
• dbSNP Id: rs778163347

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730405_214730407del , CM000664.2:g.214730405_214730407del	GRCh38
NC_000002.11:g.215595129_215595131del , CM000664.1:g.215595129_215595131del	GRCh37
NC_000002.10:g.215303374_215303376del	NCBI36
NG_012047.2:g.84300_84302del
NG_012047.3:g.84307_84309del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2001+6_2001+8del MANE Select	ENSP00000260947.4:n.2001+6_2001+8del
ENST00000421162.2:c.648+6_648+8del	ENSP00000392245.2:n.648+6_648+8del
ENST00000613192.2:c.*64+6_*64+8del	ENSP00000483275.2:n.*64+6_*64+8del
ENST00000613374.5:c.591+6_591+8del	ENSP00000484464.1:n.591+6_591+8del
ENST00000613706.5:c.1593+6_1593+8del	ENSP00000484976.2:n.1593+6_1593+8del
ENST00000617164.5:c.1944+6_1944+8del	ENSP00000480470.1:n.1944+6_1944+8del
ENST00000619009.5:c.462+6_462+8del	ENSP00000482293.1:n.462+6_462+8del
ENST00000650978.1:c.3376+6_3376+8del
ENST00000260947.8:c.2001+6_2001+8del	ENSP00000260947.4:n.2001+6_2001+8del
ENST00000432456.5:c.98+6_98+8del
ENST00000455743.5:c.*1621+6_*1621+8del	ENSP00000412186.1:n.*1621+6_*1621+8del
ENST00000471590.5:n.336+6_336+8del
ENST00000613192.1:c.171+6_171+8del	ENSP00000483275.1:n.171+6_171+8del
ENST00000613374.4:c.591+6_591+8del	ENSP00000484464.1:n.591+6_591+8del
ENST00000613706.4:c.648+6_648+8del	ENSP00000484976.1:n.648+6_648+8del
ENST00000617164.4:c.1944+6_1944+8del	ENSP00000480470.1:n.1944+6_1944+8del
ENST00000619009.4:c.462+6_462+8del	ENSP00000482293.1:n.462+6_462+8del
ENST00000620057.4:c.*667+6_*667+8del	ENSP00000481988.1:n.*667+6_*667+8del
NM_000465.3:c.2001+6_2001+8del	NP_000456.2:n.2001+6_2001+8del
NM_001282543.1:c.1944+6_1944+8del	NP_001269472.1:n.1944+6_1944+8del
NM_001282545.1:c.648+6_648+8del	NP_001269474.1:n.648+6_648+8del
NM_001282548.1:c.591+6_591+8del	NP_001269477.1:n.591+6_591+8del
NM_001282549.1:c.462+6_462+8del	NP_001269478.1:n.462+6_462+8del
NR_104212.1:n.1994+6_1994+8del
NR_104215.1:n.1937+6_1937+8del
NR_104216.1:n.1193+6_1193+8del
XM_011511567.1:c.1947+6_1947+8del	XP_011509869.1:n.1947+6_1947+8del
XM_017004613.1:c.2100+6_2100+8del	XP_016860102.1:n.2100+6_2100+8del
XR_002959322.1:n.2197_2199del
NM_000465.4:c.2001+6_2001+8del MANE Select	NP_000456.2:n.2001+6_2001+8del
NM_001282543.2:c.1944+6_1944+8del	NP_001269472.1:n.1944+6_1944+8del
NM_001282545.2:c.648+6_648+8del	NP_001269474.1:n.648+6_648+8del
NM_001282548.2:c.591+6_591+8del	NP_001269477.1:n.591+6_591+8del
NM_001282549.2:c.462+6_462+8del	NP_001269478.1:n.462+6_462+8del
NR_104212.2:n.1966+6_1966+8del
NR_104215.2:n.1909+6_1909+8del
NR_104216.2:n.1165+6_1165+8del