Canonical Allele Identifier: CA1327071233
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781026G= , CM000664.2:g.214781026G= GRCh38
NC_000002.11:g.215645750G= , CM000664.1:g.215645750G= GRCh37
NC_000002.10:g.215353995G= NCBI36
NG_012047.2:g.33679C=
NG_012047.3:g.33686C=

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.848C= MANE Select ENSP00000260947.4:p.Ala283=
ENST00000421162.2:c.215+16035C= ENSP00000392245.2:n.215+16035C=
ENST00000613192.2:c.158+28386C= ENSP00000483275.2:n.158+28386C=
ENST00000613374.5:c.158+28386C= ENSP00000484464.1:n.158+28386C=
ENST00000613706.5:c.848C= ENSP00000484976.2:p.Ala283=
ENST00000617164.5:c.791C= ENSP00000480470.1:p.Ala264=
ENST00000619009.5:c.364+11271C= ENSP00000482293.1:n.364+11271C=
ENST00000650978.1:c.690C=
ENST00000260947.8:c.848C= ENSP00000260947.4:p.Ala283=
ENST00000421162.1:c.215+16035C= ENSP00000392245.1:n.215+16035C=
ENST00000455743.5:c.*468C= ENSP00000412186.1:n.*468C=
ENST00000471787.1:n.743C=
ENST00000613192.1:c.73+28386C= ENSP00000483275.1:n.73+28386C=
ENST00000613374.4:c.158+28386C= ENSP00000484464.1:n.158+28386C=
ENST00000613706.4:c.215+16035C= ENSP00000484976.1:n.215+16035C=
ENST00000617164.4:c.791C= ENSP00000480470.1:p.Ala264=
ENST00000619009.4:c.364+11271C= ENSP00000482293.1:n.364+11271C=
ENST00000620057.4:c.364+11271C= ENSP00000481988.1:n.364+11271C=
NM_000465.3:c.848C= NP_000456.2:p.Ala283=
NM_001282543.1:c.791C= NP_001269472.1:p.Ala264=
NM_001282545.1:c.215+16035C= NP_001269474.1:n.215+16035C=
NM_001282548.1:c.158+28386C= NP_001269477.1:n.158+28386C=
NM_001282549.1:c.364+11271C= NP_001269478.1:n.364+11271C=
NR_104212.1:n.841C=
NR_104215.1:n.784C=
NR_104216.1:n.506+11271C=
XM_011511567.1:c.794C= XP_011509869.1:p.Ala265=
XM_011511568.1:c.848C= XP_011509870.1:p.Ala283=
XM_017004613.1:c.947C= XP_016860102.1:p.Ala316=
XM_017004614.1:c.947C= XP_016860103.1:p.Ala316=
XR_002959322.1:n.1038C=
NM_000465.4:c.848C= MANE Select NP_000456.2:p.Ala283=
NM_001282543.2:c.791C= NP_001269472.1:p.Ala264=
NM_001282545.2:c.215+16035C= NP_001269474.1:n.215+16035C=
NM_001282548.2:c.158+28386C= NP_001269477.1:n.158+28386C=
NM_001282549.2:c.364+11271C= NP_001269478.1:n.364+11271C=
NR_104212.2:n.813C=
NR_104215.2:n.756C=
NR_104216.2:n.478+11271C=