Canonical Allele Identifier: CA2739279924
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2820355
ClinVar RCV Id: RCV003607954

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792459_214792460insT , CM000664.2:g.214792459_214792460insT GRCh38
NC_000002.11:g.215657183_215657184insT , CM000664.1:g.215657183_215657184insT GRCh37
NC_000002.10:g.215365428_215365429insT NCBI36
NG_012047.2:g.22245_22246insA
NG_012047.3:g.22252_22253insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.216-15_216-14insA MANE Select ENSP00000260947.4:n.216-15_216-14insA
ENST00000421162.2:c.215+4601_215+4602insA ENSP00000392245.2:n.215+4601_215+4602insA
ENST00000613192.2:c.158+16952_158+16953insA ENSP00000483275.2:n.158+16952_158+16953insA
ENST00000613374.5:c.158+16952_158+16953insA ENSP00000484464.1:n.158+16952_158+16953insA
ENST00000613706.5:c.216-15_216-14insA ENSP00000484976.2:n.216-15_216-14insA
ENST00000617164.5:c.159-15_159-14insA ENSP00000480470.1:n.159-15_159-14insA
ENST00000619009.5:c.216-15_216-14insA ENSP00000482293.1:n.216-15_216-14insA
ENST00000650978.1:c.58-15_58-14insA
ENST00000260947.8:c.216-15_216-14insA ENSP00000260947.4:n.216-15_216-14insA
ENST00000421162.1:c.215+4601_215+4602insA ENSP00000392245.1:n.215+4601_215+4602insA
ENST00000455743.5:c.215+4601_215+4602insA ENSP00000412186.1:n.215+4601_215+4602insA
ENST00000471787.1:n.260-10951_260-10950insA
ENST00000613192.1:c.73+16952_73+16953insA ENSP00000483275.1:n.73+16952_73+16953insA
ENST00000613374.4:c.158+16952_158+16953insA ENSP00000484464.1:n.158+16952_158+16953insA
ENST00000613706.4:c.215+4601_215+4602insA ENSP00000484976.1:n.215+4601_215+4602insA
ENST00000617164.4:c.159-15_159-14insA ENSP00000480470.1:n.159-15_159-14insA
ENST00000619009.4:c.216-15_216-14insA ENSP00000482293.1:n.216-15_216-14insA
ENST00000620057.4:c.216-15_216-14insA ENSP00000481988.1:n.216-15_216-14insA
NM_000465.3:c.216-15_216-14insA NP_000456.2:n.216-15_216-14insA
NM_001282543.1:c.159-15_159-14insA NP_001269472.1:n.159-15_159-14insA
NM_001282545.1:c.215+4601_215+4602insA NP_001269474.1:n.215+4601_215+4602insA
NM_001282548.1:c.158+16952_158+16953insA NP_001269477.1:n.158+16952_158+16953insA
NM_001282549.1:c.216-15_216-14insA NP_001269478.1:n.216-15_216-14insA
NR_104212.1:n.357+4601_357+4602insA
NR_104215.1:n.301-10951_301-10950insA
NR_104216.1:n.358-15_358-14insA
XM_011511567.1:c.162-15_162-14insA XP_011509869.1:n.162-15_162-14insA
XM_011511568.1:c.216-15_216-14insA XP_011509870.1:n.216-15_216-14insA
XM_017004613.1:c.315-15_315-14insA XP_016860102.1:n.315-15_315-14insA
XM_017004614.1:c.315-15_315-14insA XP_016860103.1:n.315-15_315-14insA
XR_002959322.1:n.406-15_406-14insA
NM_000465.4:c.216-15_216-14insA MANE Select NP_000456.2:n.216-15_216-14insA
NM_001282543.2:c.159-15_159-14insA NP_001269472.1:n.159-15_159-14insA
NM_001282545.2:c.215+4601_215+4602insA NP_001269474.1:n.215+4601_215+4602insA
NM_001282548.2:c.158+16952_158+16953insA NP_001269477.1:n.158+16952_158+16953insA
NM_001282549.2:c.216-15_216-14insA NP_001269478.1:n.216-15_216-14insA
NR_104212.2:n.329+4601_329+4602insA
NR_104215.2:n.273-10951_273-10950insA
NR_104216.2:n.330-15_330-14insA