Canonical Allele Identifier: CA10612770

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1292322
• ClinVar RCV Id: RCV001714390
• dbSNP Id: rs33960630 ; rs58253676 ; rs113789798 ; rs886055598
• gnomAD: 2:215593261 C / CT
• MyVariant Identifiers: chr2:g.215593262dupT (hg19) ; chr2:g.215593263_215593264insT (hg19) ; chr2:g.215593261_215593262insT (hg19) ; chr2:g.214728538dupT (hg38) ; chr2:g.214728539_214728540insT (hg38) ; chr2:g.214728537_214728538insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728552dup , CM000664.2:g.214728552dup	GRCh38
NC_000002.11:g.215593276dup , CM000664.1:g.215593276dup	GRCh37
NC_000002.10:g.215301521dup	NCBI36
NG_012047.2:g.86167dup
NG_012047.3:g.86174dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*138dup MANE Select	ENSP00000260947.4:p.=
ENST00000260947.8:c.*138dup	ENSP00000260947.4:p.=
ENST00000471590.5:n.807dup
ENST00000613374.4:c.*138dup	ENSP00000484464.1:p.=
ENST00000613706.4:c.*138dup	ENSP00000484976.1:p.=
ENST00000617164.4:c.*138dup	ENSP00000480470.1:p.=
ENST00000619009.4:c.*138dup	ENSP00000482293.1:p.=
NM_000465.3:c.*138dup	NP_000456.2:p.=
NM_001282543.1:c.*138dup	NP_001269472.1:p.=
NM_001282545.1:c.*138dup	NP_001269474.1:p.=
NM_001282548.1:c.*138dup	NP_001269477.1:p.=
NM_001282549.1:c.*138dup	NP_001269478.1:p.=
NR_104212.1:n.2465dup
NR_104215.1:n.2408dup
NR_104216.1:n.1664dup
XM_011511567.1:c.*138dup	XP_011509869.1:p.=
XM_017004613.1:c.*138dup	XP_016860102.1:p.=
NM_000465.4:c.*138dup MANE Select	NP_000456.2:p.=
NM_001282543.2:c.*138dup	NP_001269472.1:p.=
NM_001282545.2:c.*138dup	NP_001269474.1:p.=
NM_001282548.2:c.*138dup	NP_001269477.1:p.=
NM_001282549.2:c.*138dup	NP_001269478.1:p.=
NR_104212.2:n.2437dup
NR_104215.2:n.2380dup
NR_104216.2:n.1636dup