Canonical Allele Identifier: CA10581920

Gene: BARD1

Linked Data

• ClinVar Variation Id: 237828
• ClinVar RCV Id: RCV000228375
• dbSNP Id: rs878854005
• MyVariant Identifiers: chr2:g.215593594_215593596dupTCA (hg19) ; chr2:g.215593593_215593594insTCA (hg19) ; chr2:g.214728870_214728872dupTCA (hg38) ; chr2:g.214728869_214728870insTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728870_214728872dup , CM000664.2:g.214728870_214728872dup	GRCh38
NC_000002.11:g.215593594_215593596dup , CM000664.1:g.215593594_215593596dup	GRCh37
NC_000002.10:g.215301839_215301841dup	NCBI36
NG_012047.2:g.85833_85835dup
NG_012047.3:g.85840_85842dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2138_2140dup MANE Select	ENSP00000260947.4:p.Val713_Thr714insMet
ENST00000421162.2:c.785_787dup	ENSP00000392245.2:p.Val262_Thr263insMet
ENST00000613192.2:c.*201_*203dup	ENSP00000483275.2:n.*201_*203dup
ENST00000613374.5:c.728_730dup	ENSP00000484464.1:p.Val243_Thr244insMet
ENST00000613706.5:c.1730_1732dup	ENSP00000484976.2:p.Val577_Thr578insMet
ENST00000617164.5:c.2081_2083dup	ENSP00000480470.1:p.Val694_Thr695insMet
ENST00000619009.5:c.599_601dup	ENSP00000482293.1:p.Val200_Thr201insMet
ENST00000650978.1:c.3513_3515dup
ENST00000260947.8:c.2138_2140dup	ENSP00000260947.4:p.Val713_Thr714insMet
ENST00000432456.5:c.281_283dup
ENST00000455743.5:c.*1758_*1760dup	ENSP00000412186.1:n.*1758_*1760dup
ENST00000471590.5:n.473_475dup
ENST00000613192.1:c.308_310dup	ENSP00000483275.1:p.Val103_Thr104insMet
ENST00000613374.4:c.728_730dup	ENSP00000484464.1:p.Val243_Thr244insMet
ENST00000613706.4:c.785_787dup	ENSP00000484976.1:p.Val262_Thr263insMet
ENST00000617164.4:c.2081_2083dup	ENSP00000480470.1:p.Val694_Thr695insMet
ENST00000619009.4:c.599_601dup	ENSP00000482293.1:p.Val200_Thr201insMet
ENST00000620057.4:c.*804_*806dup	ENSP00000481988.1:n.*804_*806dup
NM_000465.3:c.2138_2140dup	NP_000456.2:p.Val713_Thr714insMet
NM_001282543.1:c.2081_2083dup	NP_001269472.1:p.Val694_Thr695insMet
NM_001282545.1:c.785_787dup	NP_001269474.1:p.Val262_Thr263insMet
NM_001282548.1:c.728_730dup	NP_001269477.1:p.Val243_Thr244insMet
NM_001282549.1:c.599_601dup	NP_001269478.1:p.Val200_Thr201insMet
NR_104212.1:n.2131_2133dup
NR_104215.1:n.2074_2076dup
NR_104216.1:n.1330_1332dup
XM_011511567.1:c.2084_2086dup	XP_011509869.1:p.Val695_Thr696insMet
XM_017004613.1:c.2237_2239dup	XP_016860102.1:p.Val746_Thr747insMet
XR_002959322.1:n.2504_2506dup
NM_000465.4:c.2138_2140dup MANE Select	NP_000456.2:p.Val713_Thr714insMet
NM_001282543.2:c.2081_2083dup	NP_001269472.1:p.Val694_Thr695insMet
NM_001282545.2:c.785_787dup	NP_001269474.1:p.Val262_Thr263insMet
NM_001282548.2:c.728_730dup	NP_001269477.1:p.Val243_Thr244insMet
NM_001282549.2:c.599_601dup	NP_001269478.1:p.Val200_Thr201insMet
NR_104212.2:n.2103_2105dup
NR_104215.2:n.2046_2048dup
NR_104216.2:n.1302_1304dup