Canonical Allele Identifier: CA2739279712

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2812717
• ClinVar RCV Id: RCV003607864

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780560_214780565del , CM000664.2:g.214780560_214780565del	GRCh38
NC_000002.11:g.215645284_215645289del , CM000664.1:g.215645284_215645289del	GRCh37
NC_000002.10:g.215353529_215353534del	NCBI36
NG_012047.2:g.34140_34145del
NG_012047.3:g.34147_34152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1309_1314del MANE Select	ENSP00000260947.4:p.Ile437_Lys438del
ENST00000421162.2:c.215+16496_215+16501del	ENSP00000392245.2:n.215+16496_215+16501del
ENST00000613192.2:c.158+28847_158+28852del	ENSP00000483275.2:n.158+28847_158+28852del
ENST00000613374.5:c.159-28010_159-28005del	ENSP00000484464.1:n.159-28010_159-28005del
ENST00000613706.5:c.906+403_906+408del	ENSP00000484976.2:n.906+403_906+408del
ENST00000617164.5:c.1252_1257del	ENSP00000480470.1:p.Ile418_Lys419del
ENST00000619009.5:c.364+11732_364+11737del	ENSP00000482293.1:n.364+11732_364+11737del
ENST00000650978.1:c.1151_1156del
ENST00000260947.8:c.1309_1314del	ENSP00000260947.4:p.Ile437_Lys438del
ENST00000421162.1:c.215+16496_215+16501del	ENSP00000392245.1:n.215+16496_215+16501del
ENST00000455743.5:c.*929_*934del	ENSP00000412186.1:n.*929_*934del
ENST00000613192.1:c.73+28847_73+28852del	ENSP00000483275.1:n.73+28847_73+28852del
ENST00000613374.4:c.159-28010_159-28005del	ENSP00000484464.1:n.159-28010_159-28005del
ENST00000613706.4:c.215+16496_215+16501del	ENSP00000484976.1:n.215+16496_215+16501del
ENST00000617164.4:c.1252_1257del	ENSP00000480470.1:p.Ile418_Lys419del
ENST00000619009.4:c.364+11732_364+11737del	ENSP00000482293.1:n.364+11732_364+11737del
ENST00000620057.4:c.365-11253_365-11248del	ENSP00000481988.1:n.365-11253_365-11248del
NM_000465.3:c.1309_1314del	NP_000456.2:p.Ile437_Lys438del
NM_001282543.1:c.1252_1257del	NP_001269472.1:p.Ile418_Lys419del
NM_001282545.1:c.215+16496_215+16501del	NP_001269474.1:n.215+16496_215+16501del
NM_001282548.1:c.159-28010_159-28005del	NP_001269477.1:n.159-28010_159-28005del
NM_001282549.1:c.364+11732_364+11737del	NP_001269478.1:n.364+11732_364+11737del
NR_104212.1:n.1302_1307del
NR_104215.1:n.1245_1250del
NR_104216.1:n.507-11253_507-11248del
XM_011511567.1:c.1255_1260del	XP_011509869.1:p.Ile419_Lys420del
XM_011511568.1:c.1309_1314del	XP_011509870.1:p.Ile437_Lys438del
XM_017004613.1:c.1408_1413del	XP_016860102.1:p.Ile470_Lys471del
XM_017004614.1:c.1408_1413del	XP_016860103.1:p.Ile470_Lys471del
XR_002959322.1:n.1499_1504del
NM_000465.4:c.1309_1314del MANE Select	NP_000456.2:p.Ile437_Lys438del
NM_001282543.2:c.1252_1257del	NP_001269472.1:p.Ile418_Lys419del
NM_001282545.2:c.215+16496_215+16501del	NP_001269474.1:n.215+16496_215+16501del
NM_001282548.2:c.159-28010_159-28005del	NP_001269477.1:n.159-28010_159-28005del
NM_001282549.2:c.364+11732_364+11737del	NP_001269478.1:n.364+11732_364+11737del
NR_104212.2:n.1274_1279del
NR_104215.2:n.1217_1222del
NR_104216.2:n.479-11253_479-11248del