Canonical Allele Identifier: CA764557561

Gene: BARD1

Linked Data

• dbSNP Id: rs1429930469
• gnomAD v3: 2-214728720-TA-T
• gnomAD v4: 2-214728720-TA-T
• MyVariant Identifiers: chr2:g.215593445del (hg19) ; chr2:g.214728721del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728723del , CM000664.2:g.214728723del	GRCh38
NC_000002.11:g.215593447del , CM000664.1:g.215593447del	GRCh37
NC_000002.10:g.215301692del	NCBI36
NG_012047.2:g.85984del
NG_012047.3:g.85991del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2289del MANE Select	ENSP00000260947.4:p.Phe763LeufsTer2
ENST00000421162.2:c.936del	ENSP00000392245.2:p.Phe312LeufsTer2
ENST00000613192.2:c.*352del	ENSP00000483275.2:n.*352del
ENST00000613374.5:c.879del	ENSP00000484464.1:p.Phe293LeufsTer2
ENST00000613706.5:c.1881del	ENSP00000484976.2:p.Phe627LeufsTer2
ENST00000617164.5:c.2232del	ENSP00000480470.1:p.Phe744LeufsTer2
ENST00000619009.5:c.750del	ENSP00000482293.1:p.Phe250LeufsTer2
ENST00000650978.1:c.3664del
ENST00000260947.8:c.2289del	ENSP00000260947.4:p.Phe763LeufsTer2
ENST00000432456.5:c.432del
ENST00000455743.5:c.*1909del	ENSP00000412186.1:n.*1909del
ENST00000471590.5:n.624del
ENST00000613192.1:c.459del	ENSP00000483275.1:p.Phe153LeufsTer2
ENST00000613374.4:c.879del	ENSP00000484464.1:p.Phe293LeufsTer2
ENST00000613706.4:c.936del	ENSP00000484976.1:p.Phe312LeufsTer2
ENST00000617164.4:c.2232del	ENSP00000480470.1:p.Phe744LeufsTer2
ENST00000619009.4:c.750del	ENSP00000482293.1:p.Phe250LeufsTer2
ENST00000620057.4:c.*955del	ENSP00000481988.1:n.*955del
NM_000465.3:c.2289del	NP_000456.2:p.Phe763LeufsTer2
NM_001282543.1:c.2232del	NP_001269472.1:p.Phe744LeufsTer2
NM_001282545.1:c.936del	NP_001269474.1:p.Phe312LeufsTer2
NM_001282548.1:c.879del	NP_001269477.1:p.Phe293LeufsTer2
NM_001282549.1:c.750del	NP_001269478.1:p.Phe250LeufsTer2
NR_104212.1:n.2282del
NR_104215.1:n.2225del
NR_104216.1:n.1481del
XM_011511567.1:c.2235del	XP_011509869.1:p.Phe745LeufsTer2
XM_017004613.1:c.2388del	XP_016860102.1:p.Phe796LeufsTer2
XR_002959322.1:n.2655del
NM_000465.4:c.2289del MANE Select	NP_000456.2:p.Phe763LeufsTer2
NM_001282543.2:c.2232del	NP_001269472.1:p.Phe744LeufsTer2
NM_001282545.2:c.936del	NP_001269474.1:p.Phe312LeufsTer2
NM_001282548.2:c.879del	NP_001269477.1:p.Phe293LeufsTer2
NM_001282549.2:c.750del	NP_001269478.1:p.Phe250LeufsTer2
NR_104212.2:n.2254del
NR_104215.2:n.2197del
NR_104216.2:n.1453del