Canonical Allele Identifier: CA2701531930
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs2106134061

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792201dup , CM000664.2:g.214792201dup GRCh38
NC_000002.11:g.215656925dup , CM000664.1:g.215656925dup GRCh37
NC_000002.10:g.215365170dup NCBI36
NG_012047.2:g.22505dup
NG_012047.3:g.22512dup

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.364+97dup MANE Select ENSP00000260947.4:n.364+97dup
ENST00000421162.2:c.215+4861dup ENSP00000392245.2:n.215+4861dup
ENST00000613192.2:c.158+17212dup ENSP00000483275.2:n.158+17212dup
ENST00000613374.5:c.158+17212dup ENSP00000484464.1:n.158+17212dup
ENST00000613706.5:c.364+97dup ENSP00000484976.2:n.364+97dup
ENST00000617164.5:c.307+97dup ENSP00000480470.1:n.307+97dup
ENST00000619009.5:c.364+97dup ENSP00000482293.1:n.364+97dup
ENST00000650978.1:c.206+97dup
ENST00000260947.8:c.364+97dup ENSP00000260947.4:n.364+97dup
ENST00000421162.1:c.215+4861dup ENSP00000392245.1:n.215+4861dup
ENST00000455743.5:c.215+4861dup ENSP00000412186.1:n.215+4861dup
ENST00000471787.1:n.260-10691dup
ENST00000613192.1:c.73+17212dup ENSP00000483275.1:n.73+17212dup
ENST00000613374.4:c.158+17212dup ENSP00000484464.1:n.158+17212dup
ENST00000613706.4:c.215+4861dup ENSP00000484976.1:n.215+4861dup
ENST00000617164.4:c.307+97dup ENSP00000480470.1:n.307+97dup
ENST00000619009.4:c.364+97dup ENSP00000482293.1:n.364+97dup
ENST00000620057.4:c.364+97dup ENSP00000481988.1:n.364+97dup
NM_000465.3:c.364+97dup NP_000456.2:n.364+97dup
NM_001282543.1:c.307+97dup NP_001269472.1:n.307+97dup
NM_001282545.1:c.215+4861dup NP_001269474.1:n.215+4861dup
NM_001282548.1:c.158+17212dup NP_001269477.1:n.158+17212dup
NM_001282549.1:c.364+97dup NP_001269478.1:n.364+97dup
NR_104212.1:n.357+4861dup
NR_104215.1:n.301-10691dup
NR_104216.1:n.506+97dup
XM_011511567.1:c.310+97dup XP_011509869.1:n.310+97dup
XM_011511568.1:c.364+97dup XP_011509870.1:n.364+97dup
XM_017004613.1:c.463+97dup XP_016860102.1:n.463+97dup
XM_017004614.1:c.463+97dup XP_016860103.1:n.463+97dup
XR_002959322.1:n.554+97dup
NM_000465.4:c.364+97dup MANE Select NP_000456.2:n.364+97dup
NM_001282543.2:c.307+97dup NP_001269472.1:n.307+97dup
NM_001282545.2:c.215+4861dup NP_001269474.1:n.215+4861dup
NM_001282548.2:c.158+17212dup NP_001269477.1:n.158+17212dup
NM_001282549.2:c.364+97dup NP_001269478.1:n.364+97dup
NR_104212.2:n.329+4861dup
NR_104215.2:n.273-10691dup
NR_104216.2:n.478+97dup