Canonical Allele Identifier: CA1327057441
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs1693512923

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214752615del , CM000664.2:g.214752615del GRCh38
NC_000002.11:g.215617339del , CM000664.1:g.215617339del GRCh37
NC_000002.10:g.215325584del NCBI36
NG_012047.2:g.62094del
NG_012047.3:g.62101del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1569-56del MANE Select ENSP00000260947.4:n.1569-56del
ENST00000421162.2:c.216-56del ENSP00000392245.2:n.216-56del
ENST00000613192.2:c.159-22103del ENSP00000483275.2:n.159-22103del
ENST00000613374.5:c.159-56del ENSP00000484464.1:n.159-56del
ENST00000613706.5:c.1161-56del ENSP00000484976.2:n.1161-56del
ENST00000617164.5:c.1512-56del ENSP00000480470.1:n.1512-56del
ENST00000619009.5:c.365-22103del ENSP00000482293.1:n.365-22103del
ENST00000650978.1:c.2944-56del
ENST00000260947.8:c.1569-56del ENSP00000260947.4:n.1569-56del
ENST00000421162.1:c.216-56del ENSP00000392245.1:n.216-56del
ENST00000455743.5:c.*1189-56del ENSP00000412186.1:n.*1189-56del
ENST00000613192.1:c.74-22103del ENSP00000483275.1:n.74-22103del
ENST00000613374.4:c.159-56del ENSP00000484464.1:n.159-56del
ENST00000613706.4:c.216-56del ENSP00000484976.1:n.216-56del
ENST00000617164.4:c.1512-56del ENSP00000480470.1:n.1512-56del
ENST00000619009.4:c.365-22103del ENSP00000482293.1:n.365-22103del
ENST00000620057.4:c.*235-56del ENSP00000481988.1:n.*235-56del
NM_000465.3:c.1569-56del NP_000456.2:n.1569-56del
NM_001282543.1:c.1512-56del NP_001269472.1:n.1512-56del
NM_001282545.1:c.216-56del NP_001269474.1:n.216-56del
NM_001282548.1:c.159-56del NP_001269477.1:n.159-56del
NM_001282549.1:c.365-22103del NP_001269478.1:n.365-22103del
NR_104212.1:n.1562-56del
NR_104215.1:n.1505-56del
NR_104216.1:n.761-56del
XM_011511567.1:c.1515-56del XP_011509869.1:n.1515-56del
XM_011511568.1:c.1569-56del XP_011509870.1:n.1569-56del
XM_017004613.1:c.1668-56del XP_016860102.1:n.1668-56del
XM_017004614.1:c.1668-56del XP_016860103.1:n.1668-56del
XR_002959322.1:n.1759-56del
NM_000465.4:c.1569-56del MANE Select NP_000456.2:n.1569-56del
NM_001282543.2:c.1512-56del NP_001269472.1:n.1512-56del
NM_001282545.2:c.216-56del NP_001269474.1:n.216-56del
NM_001282548.2:c.159-56del NP_001269477.1:n.159-56del
NM_001282549.2:c.365-22103del NP_001269478.1:n.365-22103del
NR_104212.2:n.1534-56del
NR_104215.2:n.1477-56del
NR_104216.2:n.733-56del