Canonical Allele Identifier: CA1139655709

Gene: BARD1

Linked Data

• ClinVar Variation Id: 926924
• ClinVar RCV Id: RCV001189831
• dbSNP Id: rs1694967132

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780821_214780823delinsGGC , CM000664.2:g.214780821_214780823delinsGGC	GRCh38
NC_000002.11:g.215645545_215645547delinsGGC , CM000664.1:g.215645545_215645547delinsGGC	GRCh37
NC_000002.10:g.215353790_215353792delinsGGC	NCBI36
NG_012047.2:g.33882_33884delinsGCC
NG_012047.3:g.33889_33891delinsGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1051_1053delinsGCC MANE Select	ENSP00000260947.4:p.Thr351Ala
ENST00000421162.2:c.215+16238_215+16240delinsGCC	ENSP00000392245.2:n.215+16238_215+16240de...
ENST00000613192.2:c.158+28589_158+28591delinsGCC	ENSP00000483275.2:n.158+28589_158+28591de...
ENST00000613374.5:c.159-28268_159-28266delinsGCC	ENSP00000484464.1:n.159-28268_159-28266de...
ENST00000613706.5:c.906+145_906+147delinsGCC	ENSP00000484976.2:n.906+145_906+147delins...
ENST00000617164.5:c.994_996delinsGCC	ENSP00000480470.1:p.Thr332Ala
ENST00000619009.5:c.364+11474_364+11476delinsGCC	ENSP00000482293.1:n.364+11474_364+11476de...
ENST00000650978.1:c.893_895delinsGCC
ENST00000260947.8:c.1051_1053delinsGCC	ENSP00000260947.4:p.Thr351Ala
ENST00000421162.1:c.215+16238_215+16240delinsGCC	ENSP00000392245.1:n.215+16238_215+16240de...
ENST00000455743.5:c.*671_*673delinsGCC	ENSP00000412186.1:n.*671_*673delinsGCC
ENST00000613192.1:c.73+28589_73+28591delinsGCC	ENSP00000483275.1:n.73+28589_73+28591deli...
ENST00000613374.4:c.159-28268_159-28266delinsGCC	ENSP00000484464.1:n.159-28268_159-28266de...
ENST00000613706.4:c.215+16238_215+16240delinsGCC	ENSP00000484976.1:n.215+16238_215+16240de...
ENST00000617164.4:c.994_996delinsGCC	ENSP00000480470.1:p.Thr332Ala
ENST00000619009.4:c.364+11474_364+11476delinsGCC	ENSP00000482293.1:n.364+11474_364+11476de...
ENST00000620057.4:c.364+11474_364+11476delinsGCC	ENSP00000481988.1:n.364+11474_364+11476de...
NM_000465.3:c.1051_1053delinsGCC	NP_000456.2:p.Thr351Ala
NM_001282543.1:c.994_996delinsGCC	NP_001269472.1:p.Thr332Ala
NM_001282545.1:c.215+16238_215+16240delinsGCC	NP_001269474.1:n.215+16238_215+16240delin...
NM_001282548.1:c.159-28268_159-28266delinsGCC	NP_001269477.1:n.159-28268_159-28266delin...
NM_001282549.1:c.364+11474_364+11476delinsGCC	NP_001269478.1:n.364+11474_364+11476delin...
NR_104212.1:n.1044_1046delinsGCC
NR_104215.1:n.987_989delinsGCC
NR_104216.1:n.506+11474_506+11476delinsGCC
XM_011511567.1:c.997_999delinsGCC	XP_011509869.1:p.Thr333Ala
XM_011511568.1:c.1051_1053delinsGCC	XP_011509870.1:p.Thr351Ala
XM_017004613.1:c.1150_1152delinsGCC	XP_016860102.1:p.Thr384Ala
XM_017004614.1:c.1150_1152delinsGCC	XP_016860103.1:p.Thr384Ala
XR_002959322.1:n.1241_1243delinsGCC
NM_000465.4:c.1051_1053delinsGCC MANE Select	NP_000456.2:p.Thr351Ala
NM_001282543.2:c.994_996delinsGCC	NP_001269472.1:p.Thr332Ala
NM_001282545.2:c.215+16238_215+16240delinsGCC	NP_001269474.1:n.215+16238_215+16240delin...
NM_001282548.2:c.159-28268_159-28266delinsGCC	NP_001269477.1:n.159-28268_159-28266delin...
NM_001282549.2:c.364+11474_364+11476delinsGCC	NP_001269478.1:n.364+11474_364+11476delin...
NR_104212.2:n.1016_1018delinsGCC
NR_104215.2:n.959_961delinsGCC
NR_104216.2:n.478+11474_478+11476delinsGCC