Canonical Allele Identifier: CA2582342077

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583327
• ClinVar RCV Id: RCV003336998

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728750del , CM000664.2:g.214728750del	GRCh38
NC_000002.11:g.215593474del , CM000664.1:g.215593474del	GRCh37
NC_000002.10:g.215301719del	NCBI36
NG_012047.2:g.85957del
NG_012047.3:g.85964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2262del MANE Select	ENSP00000260947.4:p.Val755SerfsTer10
ENST00000421162.2:c.909del	ENSP00000392245.2:p.Val304SerfsTer10
ENST00000613192.2:c.*325del	ENSP00000483275.2:n.*325del
ENST00000613374.5:c.852del	ENSP00000484464.1:p.Val285SerfsTer10
ENST00000613706.5:c.1854del	ENSP00000484976.2:p.Val619SerfsTer10
ENST00000617164.5:c.2205del	ENSP00000480470.1:p.Val736SerfsTer10
ENST00000619009.5:c.723del	ENSP00000482293.1:p.Val242SerfsTer10
ENST00000650978.1:c.3637del
ENST00000260947.8:c.2262del	ENSP00000260947.4:p.Val755SerfsTer10
ENST00000432456.5:c.405del
ENST00000455743.5:c.*1882del	ENSP00000412186.1:n.*1882del
ENST00000471590.5:n.597del
ENST00000613192.1:c.432del	ENSP00000483275.1:p.Val145SerfsTer10
ENST00000613374.4:c.852del	ENSP00000484464.1:p.Val285SerfsTer10
ENST00000613706.4:c.909del	ENSP00000484976.1:p.Val304SerfsTer10
ENST00000617164.4:c.2205del	ENSP00000480470.1:p.Val736SerfsTer10
ENST00000619009.4:c.723del	ENSP00000482293.1:p.Val242SerfsTer10
ENST00000620057.4:c.*928del	ENSP00000481988.1:n.*928del
NM_000465.3:c.2262del	NP_000456.2:p.Val755SerfsTer10
NM_001282543.1:c.2205del	NP_001269472.1:p.Val736SerfsTer10
NM_001282545.1:c.909del	NP_001269474.1:p.Val304SerfsTer10
NM_001282548.1:c.852del	NP_001269477.1:p.Val285SerfsTer10
NM_001282549.1:c.723del	NP_001269478.1:p.Val242SerfsTer10
NR_104212.1:n.2255del
NR_104215.1:n.2198del
NR_104216.1:n.1454del
XM_011511567.1:c.2208del	XP_011509869.1:p.Val737SerfsTer10
XM_017004613.1:c.2361del	XP_016860102.1:p.Val788SerfsTer10
XR_002959322.1:n.2628del
NM_000465.4:c.2262del MANE Select	NP_000456.2:p.Val755SerfsTer10
NM_001282543.2:c.2205del	NP_001269472.1:p.Val736SerfsTer10
NM_001282545.2:c.909del	NP_001269474.1:p.Val304SerfsTer10
NM_001282548.2:c.852del	NP_001269477.1:p.Val285SerfsTer10
NM_001282549.2:c.723del	NP_001269478.1:p.Val242SerfsTer10
NR_104212.2:n.2227del
NR_104215.2:n.2170del
NR_104216.2:n.1426del