Canonical Allele Identifier: CA2825001076

Gene: BARD1

Linked Data

• ClinVar Variation Id: 3148678
• ClinVar RCV Id: RCV004442572

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780680del , CM000664.2:g.214780680del	GRCh38
NC_000002.11:g.215645404del , CM000664.1:g.215645404del	GRCh37
NC_000002.10:g.215353649del	NCBI36
NG_012047.2:g.34025del
NG_012047.3:g.34032del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1194del MANE Select	ENSP00000260947.4:p.Leu399Ter
ENST00000421162.2:c.215+16381del	ENSP00000392245.2:n.215+16381del
ENST00000613192.2:c.158+28732del	ENSP00000483275.2:n.158+28732del
ENST00000613374.5:c.159-28125del	ENSP00000484464.1:n.159-28125del
ENST00000613706.5:c.906+288del	ENSP00000484976.2:n.906+288del
ENST00000617164.5:c.1137del	ENSP00000480470.1:p.Leu380Ter
ENST00000619009.5:c.364+11617del	ENSP00000482293.1:n.364+11617del
ENST00000650978.1:c.1036del
ENST00000260947.8:c.1194del	ENSP00000260947.4:p.Leu399Ter
ENST00000421162.1:c.215+16381del	ENSP00000392245.1:n.215+16381del
ENST00000455743.5:c.*814del	ENSP00000412186.1:n.*814del
ENST00000613192.1:c.73+28732del	ENSP00000483275.1:n.73+28732del
ENST00000613374.4:c.159-28125del	ENSP00000484464.1:n.159-28125del
ENST00000613706.4:c.215+16381del	ENSP00000484976.1:n.215+16381del
ENST00000617164.4:c.1137del	ENSP00000480470.1:p.Leu380Ter
ENST00000619009.4:c.364+11617del	ENSP00000482293.1:n.364+11617del
ENST00000620057.4:c.365-11368del	ENSP00000481988.1:n.365-11368del
NM_000465.3:c.1194del	NP_000456.2:p.Leu399Ter
NM_001282543.1:c.1137del	NP_001269472.1:p.Leu380Ter
NM_001282545.1:c.215+16381del	NP_001269474.1:n.215+16381del
NM_001282548.1:c.159-28125del	NP_001269477.1:n.159-28125del
NM_001282549.1:c.364+11617del	NP_001269478.1:n.364+11617del
NR_104212.1:n.1187del
NR_104215.1:n.1130del
NR_104216.1:n.507-11368del
XM_011511567.1:c.1140del	XP_011509869.1:p.Leu381Ter
XM_011511568.1:c.1194del	XP_011509870.1:p.Leu399Ter
XM_017004613.1:c.1293del	XP_016860102.1:p.Leu432Ter
XM_017004614.1:c.1293del	XP_016860103.1:p.Leu432Ter
XR_002959322.1:n.1384del
NM_000465.4:c.1194del MANE Select	NP_000456.2:p.Leu399Ter
NM_001282543.2:c.1137del	NP_001269472.1:p.Leu380Ter
NM_001282545.2:c.215+16381del	NP_001269474.1:n.215+16381del
NM_001282548.2:c.159-28125del	NP_001269477.1:n.159-28125del
NM_001282549.2:c.364+11617del	NP_001269478.1:n.364+11617del
NR_104212.2:n.1159del
NR_104215.2:n.1102del
NR_104216.2:n.479-11368del