Canonical Allele Identifier: CA1042200907

Gene: BARD1

Linked Data

• gnomAD v3: 2-214728537-C-CTTTTT
• gnomAD v4: 2-214728537-C-CTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728548_214728552dup , CM000664.2:g.214728548_214728552dup	GRCh38
NC_000002.11:g.215593272_215593276dup , CM000664.1:g.215593272_215593276dup	GRCh37
NC_000002.10:g.215301517_215301521dup	NCBI36
NG_012047.2:g.86163_86167dup
NG_012047.3:g.86170_86174dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.*134_*138dup MANE Select	ENSP00000260947.4:n.*134_*138dup
ENST00000260947.8:c.*134_*138dup	ENSP00000260947.4:n.*134_*138dup
ENST00000471590.5:n.803_807dup
ENST00000613374.4:c.*134_*138dup	ENSP00000484464.1:n.*134_*138dup
ENST00000613706.4:c.*134_*138dup	ENSP00000484976.1:n.*134_*138dup
ENST00000617164.4:c.*134_*138dup	ENSP00000480470.1:n.*134_*138dup
ENST00000619009.4:c.*134_*138dup	ENSP00000482293.1:n.*134_*138dup
NM_000465.3:c.*134_*138dup	NP_000456.2:n.*134_*138dup
NM_001282543.1:c.*134_*138dup	NP_001269472.1:n.*134_*138dup
NM_001282545.1:c.*134_*138dup	NP_001269474.1:n.*134_*138dup
NM_001282548.1:c.*134_*138dup	NP_001269477.1:n.*134_*138dup
NM_001282549.1:c.*134_*138dup	NP_001269478.1:n.*134_*138dup
NR_104212.1:n.2461_2465dup
NR_104215.1:n.2404_2408dup
NR_104216.1:n.1660_1664dup
XM_011511567.1:c.*134_*138dup	XP_011509869.1:n.*134_*138dup
XM_017004613.1:c.*134_*138dup	XP_016860102.1:n.*134_*138dup
NM_000465.4:c.*134_*138dup MANE Select	NP_000456.2:n.*134_*138dup
NM_001282543.2:c.*134_*138dup	NP_001269472.1:n.*134_*138dup
NM_001282545.2:c.*134_*138dup	NP_001269474.1:n.*134_*138dup
NM_001282548.2:c.*134_*138dup	NP_001269477.1:n.*134_*138dup
NM_001282549.2:c.*134_*138dup	NP_001269478.1:n.*134_*138dup
NR_104212.2:n.2433_2437dup
NR_104215.2:n.2376_2380dup
NR_104216.2:n.1632_1636dup