Canonical Allele Identifier: CA2662969358

Gene: BARD1

Linked Data

• gnomAD v4: 2-214728385-T-TTCTGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728388_214728394dup , CM000664.2:g.214728388_214728394dup	GRCh38
NC_000002.11:g.215593112_215593118dup , CM000664.1:g.215593112_215593118dup	GRCh37
NC_000002.10:g.215301357_215301363dup	NCBI36
NG_012047.2:g.86313_86319dup
NG_012047.3:g.86320_86326dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.*284_*290dup MANE Select	ENSP00000260947.4:n.*284_*290dup
ENST00000260947.8:c.*284_*290dup	ENSP00000260947.4:n.*284_*290dup
ENST00000613374.4:c.*284_*290dup	ENSP00000484464.1:n.*284_*290dup
ENST00000613706.4:c.*284_*290dup	ENSP00000484976.1:n.*284_*290dup
ENST00000617164.4:c.*284_*290dup	ENSP00000480470.1:n.*284_*290dup
ENST00000619009.4:c.*284_*290dup	ENSP00000482293.1:n.*284_*290dup
NM_000465.3:c.*284_*290dup	NP_000456.2:n.*284_*290dup
NM_001282543.1:c.*284_*290dup	NP_001269472.1:n.*284_*290dup
NM_001282545.1:c.*284_*290dup	NP_001269474.1:n.*284_*290dup
NM_001282548.1:c.*284_*290dup	NP_001269477.1:n.*284_*290dup
NM_001282549.1:c.*284_*290dup	NP_001269478.1:n.*284_*290dup
NR_104212.1:n.2611_2617dup
NR_104215.1:n.2554_2560dup
NR_104216.1:n.1810_1816dup
XM_011511567.1:c.*284_*290dup	XP_011509869.1:n.*284_*290dup
XM_017004613.1:c.*284_*290dup	XP_016860102.1:n.*284_*290dup
NM_000465.4:c.*284_*290dup MANE Select	NP_000456.2:n.*284_*290dup
NM_001282543.2:c.*284_*290dup	NP_001269472.1:n.*284_*290dup
NM_001282545.2:c.*284_*290dup	NP_001269474.1:n.*284_*290dup
NM_001282548.2:c.*284_*290dup	NP_001269477.1:n.*284_*290dup
NM_001282549.2:c.*284_*290dup	NP_001269478.1:n.*284_*290dup
NR_104212.2:n.2583_2589dup
NR_104215.2:n.2526_2532dup
NR_104216.2:n.1782_1788dup