Canonical Allele Identifier: CA915941705

Gene: BARD1

Linked Data

• ClinVar Variation Id: 646575
• ClinVar RCV Id: RCV000800890 ; RCV001014971
• dbSNP Id: rs1574702099

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728749_214728750del , CM000664.2:g.214728749_214728750del	GRCh38
NC_000002.11:g.215593473_215593474del , CM000664.1:g.215593473_215593474del	GRCh37
NC_000002.10:g.215301718_215301719del	NCBI36
NG_012047.2:g.85956_85957del
NG_012047.3:g.85963_85964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2261_2262del MANE Select	ENSP00000260947.4:p.Lys754SerfsTer17
ENST00000421162.2:c.908_909del	ENSP00000392245.2:p.Lys303SerfsTer17
ENST00000613192.2:c.*324_*325del	ENSP00000483275.2:n.*324_*325del
ENST00000613374.5:c.851_852del	ENSP00000484464.1:p.Lys284SerfsTer17
ENST00000613706.5:c.1853_1854del	ENSP00000484976.2:p.Lys618SerfsTer17
ENST00000617164.5:c.2204_2205del	ENSP00000480470.1:p.Lys735SerfsTer17
ENST00000619009.5:c.722_723del	ENSP00000482293.1:p.Lys241SerfsTer17
ENST00000650978.1:c.3636_3637del
ENST00000260947.8:c.2261_2262del	ENSP00000260947.4:p.Lys754SerfsTer17
ENST00000432456.5:c.404_405del
ENST00000455743.5:c.*1881_*1882del	ENSP00000412186.1:n.*1881_*1882del
ENST00000471590.5:n.596_597del
ENST00000613192.1:c.431_432del	ENSP00000483275.1:p.Lys144SerfsTer17
ENST00000613374.4:c.851_852del	ENSP00000484464.1:p.Lys284SerfsTer17
ENST00000613706.4:c.908_909del	ENSP00000484976.1:p.Lys303SerfsTer17
ENST00000617164.4:c.2204_2205del	ENSP00000480470.1:p.Lys735SerfsTer17
ENST00000619009.4:c.722_723del	ENSP00000482293.1:p.Lys241SerfsTer17
ENST00000620057.4:c.*927_*928del	ENSP00000481988.1:n.*927_*928del
NM_000465.3:c.2261_2262del	NP_000456.2:p.Lys754SerfsTer17
NM_001282543.1:c.2204_2205del	NP_001269472.1:p.Lys735SerfsTer17
NM_001282545.1:c.908_909del	NP_001269474.1:p.Lys303SerfsTer17
NM_001282548.1:c.851_852del	NP_001269477.1:p.Lys284SerfsTer17
NM_001282549.1:c.722_723del	NP_001269478.1:p.Lys241SerfsTer17
NR_104212.1:n.2254_2255del
NR_104215.1:n.2197_2198del
NR_104216.1:n.1453_1454del
XM_011511567.1:c.2207_2208del	XP_011509869.1:p.Lys736SerfsTer17
XM_017004613.1:c.2360_2361del	XP_016860102.1:p.Lys787SerfsTer17
XR_002959322.1:n.2627_2628del
NM_000465.4:c.2261_2262del MANE Select	NP_000456.2:p.Lys754SerfsTer17
NM_001282543.2:c.2204_2205del	NP_001269472.1:p.Lys735SerfsTer17
NM_001282545.2:c.908_909del	NP_001269474.1:p.Lys303SerfsTer17
NM_001282548.2:c.851_852del	NP_001269477.1:p.Lys284SerfsTer17
NM_001282549.2:c.722_723del	NP_001269478.1:p.Lys241SerfsTer17
NR_104212.2:n.2226_2227del
NR_104215.2:n.2169_2170del
NR_104216.2:n.1425_1426del