Canonical Allele Identifier: CA2662969775

Gene: BARD1

Linked Data

• gnomAD v4: 2-214728557-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728560del , CM000664.2:g.214728560del	GRCh38
NC_000002.11:g.215593284del , CM000664.1:g.215593284del	GRCh37
NC_000002.10:g.215301529del	NCBI36
NG_012047.2:g.86147del
NG_012047.3:g.86154del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*118del MANE Select	ENSP00000260947.4:n.*118del
ENST00000617164.5:c.*118del	ENSP00000480470.1:n.*118del
ENST00000619009.5:c.*118del	ENSP00000482293.1:n.*118del
ENST00000260947.8:c.*118del	ENSP00000260947.4:n.*118del
ENST00000432456.5:c.595del
ENST00000471590.5:n.787del
ENST00000613374.4:c.*118del	ENSP00000484464.1:n.*118del
ENST00000613706.4:c.*118del	ENSP00000484976.1:n.*118del
ENST00000617164.4:c.*118del	ENSP00000480470.1:n.*118del
ENST00000619009.4:c.*118del	ENSP00000482293.1:n.*118del
NM_000465.3:c.*118del	NP_000456.2:n.*118del
NM_001282543.1:c.*118del	NP_001269472.1:n.*118del
NM_001282545.1:c.*118del	NP_001269474.1:n.*118del
NM_001282548.1:c.*118del	NP_001269477.1:n.*118del
NM_001282549.1:c.*118del	NP_001269478.1:n.*118del
NR_104212.1:n.2445del
NR_104215.1:n.2388del
NR_104216.1:n.1644del
XM_011511567.1:c.*118del	XP_011509869.1:n.*118del
XM_017004613.1:c.*118del	XP_016860102.1:n.*118del
XR_002959322.1:n.2818del
NM_000465.4:c.*118del MANE Select	NP_000456.2:n.*118del
NM_001282543.2:c.*118del	NP_001269472.1:n.*118del
NM_001282545.2:c.*118del	NP_001269474.1:n.*118del
NM_001282548.2:c.*118del	NP_001269477.1:n.*118del
NM_001282549.2:c.*118del	NP_001269478.1:n.*118del
NR_104212.2:n.2417del
NR_104215.2:n.2360del
NR_104216.2:n.1616del