Canonical Allele Identifier: CA1327070891

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1005936
• ClinVar RCV Id: RCV001302890
• dbSNP Id: rs1694936957

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780576_214780577insTACTTAATA , CM000664.2:g.214780576_214780577insTACTTAATA	GRCh38
NC_000002.11:g.215645300_215645301insTACTTAATA , CM000664.1:g.215645300_215645301insTACTTAATA	GRCh37
NC_000002.10:g.215353545_215353546insTACTTAATA	NCBI36
NG_012047.2:g.34128_34129insTATTAAGTA
NG_012047.3:g.34135_34136insTATTAAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1297_1298insTATTAAGTA MANE Select	ENSP00000260947.4:p.His433delinsLeuLeuSerAsn
ENST00000421162.2:c.215+16484_215+16485insTATTAAGTA	ENSP00000392245.2:n.215+16484_215+16485insTATTAAGTA
ENST00000613192.2:c.158+28835_158+28836insTATTAAGTA	ENSP00000483275.2:n.158+28835_158+28836insTATTAAGTA
ENST00000613374.5:c.159-28022_159-28021insTATTAAGTA	ENSP00000484464.1:n.159-28022_159-28021insTATTAAGTA
ENST00000613706.5:c.906+391_906+392insTATTAAGTA	ENSP00000484976.2:n.906+391_906+392insTATTAAGTA
ENST00000617164.5:c.1240_1241insTATTAAGTA	ENSP00000480470.1:p.His414delinsLeuLeuSerAsn
ENST00000619009.5:c.364+11720_364+11721insTATTAAGTA	ENSP00000482293.1:n.364+11720_364+11721insTATTAAGTA
ENST00000650978.1:c.1139_1140insTATTAAGTA
ENST00000260947.8:c.1297_1298insTATTAAGTA	ENSP00000260947.4:p.His433delinsLeuLeuSerAsn
ENST00000421162.1:c.215+16484_215+16485insTATTAAGTA	ENSP00000392245.1:n.215+16484_215+16485insTATTAAGTA
ENST00000455743.5:c.*917_*918insTATTAAGTA	ENSP00000412186.1:n.*917_*918insTATTAAGTA
ENST00000613192.1:c.73+28835_73+28836insTATTAAGTA	ENSP00000483275.1:n.73+28835_73+28836insTATTAAGTA
ENST00000613374.4:c.159-28022_159-28021insTATTAAGTA	ENSP00000484464.1:n.159-28022_159-28021insTATTAAGTA
ENST00000613706.4:c.215+16484_215+16485insTATTAAGTA	ENSP00000484976.1:n.215+16484_215+16485insTATTAAGTA
ENST00000617164.4:c.1240_1241insTATTAAGTA	ENSP00000480470.1:p.His414delinsLeuLeuSerAsn
ENST00000619009.4:c.364+11720_364+11721insTATTAAGTA	ENSP00000482293.1:n.364+11720_364+11721insTATTAAGTA
ENST00000620057.4:c.365-11265_365-11264insTATTAAGTA	ENSP00000481988.1:n.365-11265_365-11264insTATTAAGTA
NM_000465.3:c.1297_1298insTATTAAGTA	NP_000456.2:p.His433delinsLeuLeuSerAsn
NM_001282543.1:c.1240_1241insTATTAAGTA	NP_001269472.1:p.His414delinsLeuLeuSerAsn
NM_001282545.1:c.215+16484_215+16485insTATTAAGTA	NP_001269474.1:n.215+16484_215+16485insTATTAAGTA
NM_001282548.1:c.159-28022_159-28021insTATTAAGTA	NP_001269477.1:n.159-28022_159-28021insTATTAAGTA
NM_001282549.1:c.364+11720_364+11721insTATTAAGTA	NP_001269478.1:n.364+11720_364+11721insTATTAAGTA
NR_104212.1:n.1290_1291insTATTAAGTA
NR_104215.1:n.1233_1234insTATTAAGTA
NR_104216.1:n.507-11265_507-11264insTATTAAGTA
XM_011511567.1:c.1243_1244insTATTAAGTA	XP_011509869.1:p.His415delinsLeuLeuSerAsn
XM_011511568.1:c.1297_1298insTATTAAGTA	XP_011509870.1:p.His433delinsLeuLeuSerAsn
XM_017004613.1:c.1396_1397insTATTAAGTA	XP_016860102.1:p.His466delinsLeuLeuSerAsn
XM_017004614.1:c.1396_1397insTATTAAGTA	XP_016860103.1:p.His466delinsLeuLeuSerAsn
XR_002959322.1:n.1487_1488insTATTAAGTA
NM_000465.4:c.1297_1298insTATTAAGTA MANE Select	NP_000456.2:p.His433delinsLeuLeuSerAsn
NM_001282543.2:c.1240_1241insTATTAAGTA	NP_001269472.1:p.His414delinsLeuLeuSerAsn
NM_001282545.2:c.215+16484_215+16485insTATTAAGTA	NP_001269474.1:n.215+16484_215+16485insTATTAAGTA
NM_001282548.2:c.159-28022_159-28021insTATTAAGTA	NP_001269477.1:n.159-28022_159-28021insTATTAAGTA
NM_001282549.2:c.364+11720_364+11721insTATTAAGTA	NP_001269478.1:n.364+11720_364+11721insTATTAAGTA
NR_104212.2:n.1262_1263insTATTAAGTA
NR_104215.2:n.1205_1206insTATTAAGTA
NR_104216.2:n.479-11265_479-11264insTATTAAGTA