Canonical Allele Identifier: CA2573135141
Gene: BARD1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214797135_214797136insCAGTACTAACAGTTTGAAGAAATTAAA , CM000664.2:g.214797135_214797136insCAGTACTAACAGTTTGAAGAAATTAAA GRCh38
NC_000002.11:g.215661859_215661860insCAGTACTAACAGTTTGAAGAAATTAAA , CM000664.1:g.215661859_215661860insCAGTACTAACAGTTTGAAGAAATTAAA GRCh37
NC_000002.10:g.215370104_215370105insCAGTACTAACAGTTTGAAGAAATTAAA NCBI36
NG_012047.2:g.17585_17586insTGTTAGTACTGTTTAATTTCTTCAAAC
NG_012047.3:g.17592_17593insTGTTAGTACTGTTTAATTTCTTCAAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC MANE Select ENSP00000260947.4:n.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC...
ENST00000421162.2:c.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC ENSP00000392245.2:n.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC...
ENST00000613192.2:c.158+12292_158+12293insTGTTAGTACTGTTTAATTTCTTCAAAC ENSP00000483275.2:n.158+12292_158+12293insTGTTAGTACTGTTTAATTT...
ENST00000613374.5:c.158+12292_158+12293insTGTTAGTACTGTTTAATTTCTTCAAAC ENSP00000484464.1:n.158+12292_158+12293insTGTTAGTACTGTTTAATTT...
ENST00000613706.5:c.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC ENSP00000484976.2:n.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC...
ENST00000617164.5:c.159-4675_159-4674insTGTTAGTACTGTTTAATTTCTTCAAAC ENSP00000480470.1:n.159-4675_159-4674insTGTTAGTACTGTTTAATTTCT...
ENST00000619009.5:c.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC ENSP00000482293.1:n.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC...
ENST00000260947.8:c.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC ENSP00000260947.4:n.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC...
ENST00000421162.1:c.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC ENSP00000392245.1:n.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC...
ENST00000455743.5:c.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC ENSP00000412186.1:n.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC...
ENST00000471787.1:n.259+12292_259+12293insTGTTAGTACTGTTTAATTTCTTCAAAC
ENST00000479904.1:n.250-3_250-2insTGTTAGTACTGTTTAATTTCTTCAAAC
ENST00000613192.1:c.73+12292_73+12293insTGTTAGTACTGTTTAATTTCTTCAAAC ENSP00000483275.1:n.73+12292_73+12293insTGTTAGTACTGTTTAATTTCT...
ENST00000613374.4:c.158+12292_158+12293insTGTTAGTACTGTTTAATTTCTTCAAAC ENSP00000484464.1:n.158+12292_158+12293insTGTTAGTACTGTTTAATTT...
ENST00000613706.4:c.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC ENSP00000484976.1:n.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC...
ENST00000617164.4:c.159-4675_159-4674insTGTTAGTACTGTTTAATTTCTTCAAAC ENSP00000480470.1:n.159-4675_159-4674insTGTTAGTACTGTTTAATTTCT...
ENST00000619009.4:c.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC ENSP00000482293.1:n.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC...
ENST00000620057.4:c.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC ENSP00000481988.1:n.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC...
NM_000465.3:c.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC NP_000456.2:n.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC
NM_001282543.1:c.159-4675_159-4674insTGTTAGTACTGTTTAATTTCTTCAAAC NP_001269472.1:n.159-4675_159-4674insTGTTAGTACTGTTTAATTTCTTCA...
NM_001282545.1:c.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC NP_001269474.1:n.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC
NM_001282548.1:c.158+12292_158+12293insTGTTAGTACTGTTTAATTTCTTCAAAC NP_001269477.1:n.158+12292_158+12293insTGTTAGTACTGTTTAATTTCTT...
NM_001282549.1:c.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC NP_001269478.1:n.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC
NR_104212.1:n.301-3_301-2insTGTTAGTACTGTTTAATTTCTTCAAAC
NR_104215.1:n.300+12292_300+12293insTGTTAGTACTGTTTAATTTCTTCAAAC
NR_104216.1:n.301-3_301-2insTGTTAGTACTGTTTAATTTCTTCAAAC
XM_011511567.1:c.105-3_105-2insTGTTAGTACTGTTTAATTTCTTCAAAC XP_011509869.1:n.105-3_105-2insTGTTAGTACTGTTTAATTTCTTCAAAC
XM_011511568.1:c.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC XP_011509870.1:n.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC
XM_017004613.1:c.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC XP_016860102.1:n.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC
XM_017004614.1:c.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC XP_016860103.1:n.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC
XR_002959322.1:n.250-3_250-2insTGTTAGTACTGTTTAATTTCTTCAAAC
NM_000465.4:c.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC MANE Select NP_000456.2:n.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC
NM_001282543.2:c.159-4675_159-4674insTGTTAGTACTGTTTAATTTCTTCAAAC NP_001269472.1:n.159-4675_159-4674insTGTTAGTACTGTTTAATTTCTTCA...
NM_001282545.2:c.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC NP_001269474.1:n.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC
NM_001282548.2:c.158+12292_158+12293insTGTTAGTACTGTTTAATTTCTTCAAAC NP_001269477.1:n.158+12292_158+12293insTGTTAGTACTGTTTAATTTCTT...
NM_001282549.2:c.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC NP_001269478.1:n.159-3_159-2insTGTTAGTACTGTTTAATTTCTTCAAAC
NR_104212.2:n.273-3_273-2insTGTTAGTACTGTTTAATTTCTTCAAAC
NR_104215.2:n.272+12292_272+12293insTGTTAGTACTGTTTAATTTCTTCAAAC
NR_104216.2:n.273-3_273-2insTGTTAGTACTGTTTAATTTCTTCAAAC