Canonical Allele Identifier: CA2582342073

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583270
• ClinVar RCV Id: RCV003336941

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752528del , CM000664.2:g.214752528del	GRCh38
NC_000002.11:g.215617252del , CM000664.1:g.215617252del	GRCh37
NC_000002.10:g.215325497del	NCBI36
NG_012047.2:g.62178del
NG_012047.3:g.62185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1597del MANE Select	ENSP00000260947.4:p.Tyr533IlefsTer7
ENST00000421162.2:c.244del	ENSP00000392245.2:p.Tyr82IlefsTer7
ENST00000613192.2:c.159-22019del	ENSP00000483275.2:n.159-22019del
ENST00000613374.5:c.187del	ENSP00000484464.1:p.Tyr63IlefsTer7
ENST00000613706.5:c.1189del	ENSP00000484976.2:p.Tyr397IlefsTer7
ENST00000617164.5:c.1540del	ENSP00000480470.1:p.Tyr514IlefsTer7
ENST00000619009.5:c.365-22019del	ENSP00000482293.1:n.365-22019del
ENST00000650978.1:c.2972del
ENST00000260947.8:c.1597del	ENSP00000260947.4:p.Tyr533IlefsTer7
ENST00000421162.1:c.244del	ENSP00000392245.1:p.Tyr82IlefsTer7
ENST00000455743.5:c.*1217del	ENSP00000412186.1:n.*1217del
ENST00000613192.1:c.74-22019del	ENSP00000483275.1:n.74-22019del
ENST00000613374.4:c.187del	ENSP00000484464.1:p.Tyr63IlefsTer7
ENST00000613706.4:c.244del	ENSP00000484976.1:p.Tyr82IlefsTer7
ENST00000617164.4:c.1540del	ENSP00000480470.1:p.Tyr514IlefsTer7
ENST00000619009.4:c.365-22019del	ENSP00000482293.1:n.365-22019del
ENST00000620057.4:c.*263del	ENSP00000481988.1:n.*263del
NM_000465.3:c.1597del	NP_000456.2:p.Tyr533IlefsTer7
NM_001282543.1:c.1540del	NP_001269472.1:p.Tyr514IlefsTer7
NM_001282545.1:c.244del	NP_001269474.1:p.Tyr82IlefsTer7
NM_001282548.1:c.187del	NP_001269477.1:p.Tyr63IlefsTer7
NM_001282549.1:c.365-22019del	NP_001269478.1:n.365-22019del
NR_104212.1:n.1590del
NR_104215.1:n.1533del
NR_104216.1:n.789del
XM_011511567.1:c.1543del	XP_011509869.1:p.Tyr515IlefsTer7
XM_011511568.1:c.1597del	XP_011509870.1:p.Tyr533IlefsTer7
XM_017004613.1:c.1696del	XP_016860102.1:p.Tyr566IlefsTer7
XM_017004614.1:c.1696del	XP_016860103.1:p.Tyr566IlefsTer7
XR_002959322.1:n.1787del
NM_000465.4:c.1597del MANE Select	NP_000456.2:p.Tyr533IlefsTer7
NM_001282543.2:c.1540del	NP_001269472.1:p.Tyr514IlefsTer7
NM_001282545.2:c.244del	NP_001269474.1:p.Tyr82IlefsTer7
NM_001282548.2:c.187del	NP_001269477.1:p.Tyr63IlefsTer7
NM_001282549.2:c.365-22019del	NP_001269478.1:n.365-22019del
NR_104212.2:n.1562del
NR_104215.2:n.1505del
NR_104216.2:n.761del