Canonical Allele Identifier: CA2662971076

Gene: BARD1

Linked Data

• gnomAD v4: 2-214752680-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752682del , CM000664.2:g.214752682del	GRCh38
NC_000002.11:g.215617406del , CM000664.1:g.215617406del	GRCh37
NC_000002.10:g.215325651del	NCBI36
NG_012047.2:g.62024del
NG_012047.3:g.62031del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1569-126del MANE Select	ENSP00000260947.4:n.1569-126del
ENST00000421162.2:c.216-126del	ENSP00000392245.2:n.216-126del
ENST00000613192.2:c.159-22173del	ENSP00000483275.2:n.159-22173del
ENST00000613374.5:c.159-126del	ENSP00000484464.1:n.159-126del
ENST00000613706.5:c.1161-126del	ENSP00000484976.2:n.1161-126del
ENST00000617164.5:c.1512-126del	ENSP00000480470.1:n.1512-126del
ENST00000619009.5:c.365-22173del	ENSP00000482293.1:n.365-22173del
ENST00000650978.1:c.2944-126del
ENST00000260947.8:c.1569-126del	ENSP00000260947.4:n.1569-126del
ENST00000421162.1:c.216-126del	ENSP00000392245.1:n.216-126del
ENST00000455743.5:c.*1189-126del	ENSP00000412186.1:n.*1189-126del
ENST00000613192.1:c.74-22173del	ENSP00000483275.1:n.74-22173del
ENST00000613374.4:c.159-126del	ENSP00000484464.1:n.159-126del
ENST00000613706.4:c.216-126del	ENSP00000484976.1:n.216-126del
ENST00000617164.4:c.1512-126del	ENSP00000480470.1:n.1512-126del
ENST00000619009.4:c.365-22173del	ENSP00000482293.1:n.365-22173del
ENST00000620057.4:c.*235-126del	ENSP00000481988.1:n.*235-126del
NM_000465.3:c.1569-126del	NP_000456.2:n.1569-126del
NM_001282543.1:c.1512-126del	NP_001269472.1:n.1512-126del
NM_001282545.1:c.216-126del	NP_001269474.1:n.216-126del
NM_001282548.1:c.159-126del	NP_001269477.1:n.159-126del
NM_001282549.1:c.365-22173del	NP_001269478.1:n.365-22173del
NR_104212.1:n.1562-126del
NR_104215.1:n.1505-126del
NR_104216.1:n.761-126del
XM_011511567.1:c.1515-126del	XP_011509869.1:n.1515-126del
XM_011511568.1:c.1569-126del	XP_011509870.1:n.1569-126del
XM_017004613.1:c.1668-126del	XP_016860102.1:n.1668-126del
XM_017004614.1:c.1668-126del	XP_016860103.1:n.1668-126del
XR_002959322.1:n.1759-126del
NM_000465.4:c.1569-126del MANE Select	NP_000456.2:n.1569-126del
NM_001282543.2:c.1512-126del	NP_001269472.1:n.1512-126del
NM_001282545.2:c.216-126del	NP_001269474.1:n.216-126del
NM_001282548.2:c.159-126del	NP_001269477.1:n.159-126del
NM_001282549.2:c.365-22173del	NP_001269478.1:n.365-22173del
NR_104212.2:n.1534-126del
NR_104215.2:n.1477-126del
NR_104216.2:n.733-126del