Canonical Allele Identifier: CA2582342060

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583267
• ClinVar RCV Id: RCV003336938

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745119delinsCA , CM000664.2:g.214745119delinsCA	GRCh38
NC_000002.11:g.215609843delinsCA , CM000664.1:g.215609843delinsCA	GRCh37
NC_000002.10:g.215318088delinsCA	NCBI36
NG_012047.2:g.69586delinsTG
NG_012047.3:g.69593delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1851delinsTG MANE Select	ENSP00000260947.4:p.Leu618ValfsTer17
ENST00000421162.2:c.498delinsTG	ENSP00000392245.2:p.Leu167ValfsTer17
ENST00000613192.2:c.159-14611delinsTG	ENSP00000483275.2:n.159-14611delinsTG
ENST00000613374.5:c.441delinsTG	ENSP00000484464.1:p.Leu148ValfsTer17
ENST00000613706.5:c.1443delinsTG	ENSP00000484976.2:p.Leu482ValfsTer17
ENST00000617164.5:c.1794delinsTG	ENSP00000480470.1:p.Leu599ValfsTer17
ENST00000619009.5:c.365-14611delinsTG	ENSP00000482293.1:n.365-14611delinsTG
ENST00000650978.1:c.3226delinsTG
ENST00000260947.8:c.1851delinsTG	ENSP00000260947.4:p.Leu618ValfsTer17
ENST00000421162.1:c.498delinsTG	ENSP00000392245.1:p.Leu167ValfsTer17
ENST00000455743.5:c.*1471delinsTG	ENSP00000412186.1:n.*1471delinsTG
ENST00000613192.1:c.74-14611delinsTG	ENSP00000483275.1:n.74-14611delinsTG
ENST00000613374.4:c.441delinsTG	ENSP00000484464.1:p.Leu148ValfsTer17
ENST00000613706.4:c.498delinsTG	ENSP00000484976.1:p.Leu167ValfsTer17
ENST00000617164.4:c.1794delinsTG	ENSP00000480470.1:p.Leu599ValfsTer17
ENST00000619009.4:c.365-14611delinsTG	ENSP00000482293.1:n.365-14611delinsTG
ENST00000620057.4:c.*517delinsTG	ENSP00000481988.1:n.*517delinsTG
NM_000465.3:c.1851delinsTG	NP_000456.2:p.Leu618ValfsTer17
NM_001282543.1:c.1794delinsTG	NP_001269472.1:p.Leu599ValfsTer17
NM_001282545.1:c.498delinsTG	NP_001269474.1:p.Leu167ValfsTer17
NM_001282548.1:c.441delinsTG	NP_001269477.1:p.Leu148ValfsTer17
NM_001282549.1:c.365-14611delinsTG	NP_001269478.1:n.365-14611delinsTG
NR_104212.1:n.1844delinsTG
NR_104215.1:n.1787delinsTG
NR_104216.1:n.1043delinsTG
XM_011511567.1:c.1797delinsTG	XP_011509869.1:p.Leu600ValfsTer17
XM_011511568.1:c.1851delinsTG	XP_011509870.1:p.Leu618ValfsTer17
XM_017004613.1:c.1950delinsTG	XP_016860102.1:p.Leu651ValfsTer17
XM_017004614.1:c.1950delinsTG	XP_016860103.1:p.Leu651ValfsTer17
XR_002959322.1:n.2041delinsTG
NM_000465.4:c.1851delinsTG MANE Select	NP_000456.2:p.Leu618ValfsTer17
NM_001282543.2:c.1794delinsTG	NP_001269472.1:p.Leu599ValfsTer17
NM_001282545.2:c.498delinsTG	NP_001269474.1:p.Leu167ValfsTer17
NM_001282548.2:c.441delinsTG	NP_001269477.1:p.Leu148ValfsTer17
NM_001282549.2:c.365-14611delinsTG	NP_001269478.1:n.365-14611delinsTG
NR_104212.2:n.1816delinsTG
NR_104215.2:n.1759delinsTG
NR_104216.2:n.1015delinsTG