Canonical Allele Identifier: CA2586971258
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214809550_214809567del , CM000664.2:g.214809550_214809567del GRCh38
NC_000002.11:g.215674274_215674291del , CM000664.1:g.215674274_215674291del GRCh37
NC_000002.10:g.215382519_215382536del NCBI36
NG_012047.2:g.5139_5156del
NG_012047.3:g.5146_5163del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.4_21del MANE Select ENSP00000260947.4:p.Pro2_Pro7del
ENST00000421162.2:c.4_21del ENSP00000392245.2:p.Pro2_Pro7del
ENST00000613192.2:c.4_21del ENSP00000483275.2:p.Pro2_Pro7del
ENST00000613374.5:c.4_21del ENSP00000484464.1:p.Pro2_Pro7del
ENST00000613706.5:c.4_21del ENSP00000484976.2:p.Pro2_Pro7del
ENST00000617164.5:c.4_21del ENSP00000480470.1:p.Pro2_Pro7del
ENST00000619009.5:c.4_21del ENSP00000482293.1:p.Pro2_Pro7del
ENST00000260947.8:c.4_21del ENSP00000260947.4:p.Pro2_Pro7del
ENST00000421162.1:c.4_21del ENSP00000392245.1:p.Pro2_Pro7del
ENST00000455743.5:c.4_21del ENSP00000412186.1:p.Pro2_Pro7del
ENST00000471787.1:n.105_122del
ENST00000479904.1:n.95_112del
ENST00000613192.1:c.-82_-65del ENSP00000483275.1:n.-82_-65del
ENST00000613374.4:c.4_21del ENSP00000484464.1:p.Pro2_Pro7del
ENST00000613706.4:c.4_21del ENSP00000484976.1:p.Pro2_Pro7del
ENST00000617164.4:c.4_21del ENSP00000480470.1:p.Pro2_Pro7del
ENST00000619009.4:c.4_21del ENSP00000482293.1:p.Pro2_Pro7del
ENST00000620057.4:c.4_21del ENSP00000481988.1:p.Pro2_Pro7del
NM_000465.3:c.4_21del NP_000456.2:p.Pro2_Pro7del
NM_001282543.1:c.4_21del NP_001269472.1:p.Pro2_Pro7del
NM_001282545.1:c.4_21del NP_001269474.1:p.Pro2_Pro7del
NM_001282548.1:c.4_21del NP_001269477.1:p.Pro2_Pro7del
NM_001282549.1:c.4_21del NP_001269478.1:p.Pro2_Pro7del
NR_104212.1:n.146_163del
NR_104215.1:n.146_163del
NR_104216.1:n.146_163del
XM_011511568.1:c.4_21del XP_011509870.1:p.Pro2_Pro7del
XM_017004613.1:c.4_21del XP_016860102.1:p.Pro2_Pro7del
XM_017004614.1:c.4_21del XP_016860103.1:p.Pro2_Pro7del
XR_002959322.1:n.95_112del
NM_000465.4:c.4_21del MANE Select NP_000456.2:p.Pro2_Pro7del
NM_001282543.2:c.4_21del NP_001269472.1:p.Pro2_Pro7del
NM_001282545.2:c.4_21del NP_001269474.1:p.Pro2_Pro7del
NM_001282548.2:c.4_21del NP_001269477.1:p.Pro2_Pro7del
NM_001282549.2:c.4_21del NP_001269478.1:p.Pro2_Pro7del
NR_104212.2:n.118_135del
NR_104215.2:n.118_135del
NR_104216.2:n.118_135del