Canonical Allele Identifier: CA1042200999

Gene: BARD1

Linked Data

• gnomAD v3: 2-214728563-C-T
• gnomAD v4: 2-214728563-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728563C>T , CM000664.2:g.214728563C>T	GRCh38
NC_000002.11:g.215593287C>T , CM000664.1:g.215593287C>T	GRCh37
NC_000002.10:g.215301532C>T	NCBI36
NG_012047.2:g.86142G>A
NG_012047.3:g.86149G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*113G>A MANE Select	ENSP00000260947.4:n.*113G>A
ENST00000613374.5:c.*113G>A	ENSP00000484464.1:n.*113G>A
ENST00000617164.5:c.*113G>A	ENSP00000480470.1:n.*113G>A
ENST00000619009.5:c.*113G>A	ENSP00000482293.1:n.*113G>A
ENST00000260947.8:c.*113G>A	ENSP00000260947.4:n.*113G>A
ENST00000432456.5:c.590G>A
ENST00000471590.5:n.782G>A
ENST00000613374.4:c.*113G>A	ENSP00000484464.1:n.*113G>A
ENST00000613706.4:c.*113G>A	ENSP00000484976.1:n.*113G>A
ENST00000617164.4:c.*113G>A	ENSP00000480470.1:n.*113G>A
ENST00000619009.4:c.*113G>A	ENSP00000482293.1:n.*113G>A
NM_000465.3:c.*113G>A	NP_000456.2:n.*113G>A
NM_001282543.1:c.*113G>A	NP_001269472.1:n.*113G>A
NM_001282545.1:c.*113G>A	NP_001269474.1:n.*113G>A
NM_001282548.1:c.*113G>A	NP_001269477.1:n.*113G>A
NM_001282549.1:c.*113G>A	NP_001269478.1:n.*113G>A
NR_104212.1:n.2440G>A
NR_104215.1:n.2383G>A
NR_104216.1:n.1639G>A
XM_011511567.1:c.*113G>A	XP_011509869.1:n.*113G>A
XM_017004613.1:c.*113G>A	XP_016860102.1:n.*113G>A
XR_002959322.1:n.2813G>A
NM_000465.4:c.*113G>A MANE Select	NP_000456.2:n.*113G>A
NM_001282543.2:c.*113G>A	NP_001269472.1:n.*113G>A
NM_001282545.2:c.*113G>A	NP_001269474.1:n.*113G>A
NM_001282548.2:c.*113G>A	NP_001269477.1:n.*113G>A
NM_001282549.2:c.*113G>A	NP_001269478.1:n.*113G>A
NR_104212.2:n.2412G>A
NR_104215.2:n.2355G>A
NR_104216.2:n.1611G>A