Canonical Allele Identifier: CA2662972061

Gene: BARD1

Linked Data

• gnomAD v4: 2-214792319-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792322del , CM000664.2:g.214792322del	GRCh38
NC_000002.11:g.215657046del , CM000664.1:g.215657046del	GRCh37
NC_000002.10:g.215365291del	NCBI36
NG_012047.2:g.22385del
NG_012047.3:g.22392del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.341del MANE Select	ENSP00000260947.4:p.Leu114CysfsTer10
ENST00000421162.2:c.215+4741del	ENSP00000392245.2:n.215+4741del
ENST00000613192.2:c.158+17092del	ENSP00000483275.2:n.158+17092del
ENST00000613374.5:c.158+17092del	ENSP00000484464.1:n.158+17092del
ENST00000613706.5:c.341del	ENSP00000484976.2:p.Leu114CysfsTer10
ENST00000617164.5:c.284del	ENSP00000480470.1:p.Leu95CysfsTer10
ENST00000619009.5:c.341del	ENSP00000482293.1:p.Leu114CysfsTer10
ENST00000650978.1:c.183del
ENST00000260947.8:c.341del	ENSP00000260947.4:p.Leu114CysfsTer10
ENST00000421162.1:c.215+4741del	ENSP00000392245.1:n.215+4741del
ENST00000455743.5:c.215+4741del	ENSP00000412186.1:n.215+4741del
ENST00000471787.1:n.260-10811del
ENST00000613192.1:c.73+17092del	ENSP00000483275.1:n.73+17092del
ENST00000613374.4:c.158+17092del	ENSP00000484464.1:n.158+17092del
ENST00000613706.4:c.215+4741del	ENSP00000484976.1:n.215+4741del
ENST00000617164.4:c.284del	ENSP00000480470.1:p.Leu95CysfsTer10
ENST00000619009.4:c.341del	ENSP00000482293.1:p.Leu114CysfsTer10
ENST00000620057.4:c.341del	ENSP00000481988.1:p.Leu114CysfsTer?
NM_000465.3:c.341del	NP_000456.2:p.Leu114CysfsTer10
NM_001282543.1:c.284del	NP_001269472.1:p.Leu95CysfsTer10
NM_001282545.1:c.215+4741del	NP_001269474.1:n.215+4741del
NM_001282548.1:c.158+17092del	NP_001269477.1:n.158+17092del
NM_001282549.1:c.341del	NP_001269478.1:p.Leu114CysfsTer10
NR_104212.1:n.357+4741del
NR_104215.1:n.301-10811del
NR_104216.1:n.483del
XM_011511567.1:c.287del	XP_011509869.1:p.Leu96CysfsTer10
XM_011511568.1:c.341del	XP_011509870.1:p.Leu114CysfsTer10
XM_017004613.1:c.440del	XP_016860102.1:p.Leu147CysfsTer10
XM_017004614.1:c.440del	XP_016860103.1:p.Leu147CysfsTer10
XR_002959322.1:n.531del
NM_000465.4:c.341del MANE Select	NP_000456.2:p.Leu114CysfsTer10
NM_001282543.2:c.284del	NP_001269472.1:p.Leu95CysfsTer10
NM_001282545.2:c.215+4741del	NP_001269474.1:n.215+4741del
NM_001282548.2:c.158+17092del	NP_001269477.1:n.158+17092del
NM_001282549.2:c.341del	NP_001269478.1:p.Leu114CysfsTer10
NR_104212.2:n.329+4741del
NR_104215.2:n.273-10811del
NR_104216.2:n.455del