Canonical Allele Identifier: CA2695202131
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745137_214745138insAA , CM000664.2:g.214745137_214745138insAA GRCh38
NC_000002.11:g.215609861_215609862insAA , CM000664.1:g.215609861_215609862insAA GRCh37
NC_000002.10:g.215318106_215318107insAA NCBI36
NG_012047.2:g.69568_69569insTT
NG_012047.3:g.69575_69576insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1833_1834insTT MANE Select ENSP00000260947.4:p.Asp612LeufsTer8
ENST00000421162.2:c.480_481insTT ENSP00000392245.2:p.Asp161LeufsTer8
ENST00000613192.2:c.159-14629_159-14628insTT ENSP00000483275.2:n.159-14629_159-14628insTT
ENST00000613374.5:c.423_424insTT ENSP00000484464.1:p.Asp142LeufsTer8
ENST00000613706.5:c.1425_1426insTT ENSP00000484976.2:p.Asp476LeufsTer8
ENST00000617164.5:c.1776_1777insTT ENSP00000480470.1:p.Asp593LeufsTer8
ENST00000619009.5:c.365-14629_365-14628insTT ENSP00000482293.1:n.365-14629_365-14628insTT
ENST00000650978.1:c.3208_3209insTT
ENST00000260947.8:c.1833_1834insTT ENSP00000260947.4:p.Asp612LeufsTer8
ENST00000421162.1:c.480_481insTT ENSP00000392245.1:p.Asp161LeufsTer8
ENST00000455743.5:c.*1453_*1454insTT ENSP00000412186.1:n.*1453_*1454insTT
ENST00000613192.1:c.74-14629_74-14628insTT ENSP00000483275.1:n.74-14629_74-14628insTT
ENST00000613374.4:c.423_424insTT ENSP00000484464.1:p.Asp142LeufsTer8
ENST00000613706.4:c.480_481insTT ENSP00000484976.1:p.Asp161LeufsTer8
ENST00000617164.4:c.1776_1777insTT ENSP00000480470.1:p.Asp593LeufsTer8
ENST00000619009.4:c.365-14629_365-14628insTT ENSP00000482293.1:n.365-14629_365-14628insTT
ENST00000620057.4:c.*499_*500insTT ENSP00000481988.1:n.*499_*500insTT
NM_000465.3:c.1833_1834insTT NP_000456.2:p.Asp612LeufsTer8
NM_001282543.1:c.1776_1777insTT NP_001269472.1:p.Asp593LeufsTer8
NM_001282545.1:c.480_481insTT NP_001269474.1:p.Asp161LeufsTer8
NM_001282548.1:c.423_424insTT NP_001269477.1:p.Asp142LeufsTer8
NM_001282549.1:c.365-14629_365-14628insTT NP_001269478.1:n.365-14629_365-14628insTT
NR_104212.1:n.1826_1827insTT
NR_104215.1:n.1769_1770insTT
NR_104216.1:n.1025_1026insTT
XM_011511567.1:c.1779_1780insTT XP_011509869.1:p.Asp594LeufsTer8
XM_011511568.1:c.1833_1834insTT XP_011509870.1:p.Asp612LeufsTer8
XM_017004613.1:c.1932_1933insTT XP_016860102.1:p.Asp645LeufsTer8
XM_017004614.1:c.1932_1933insTT XP_016860103.1:p.Asp645LeufsTer8
XR_002959322.1:n.2023_2024insTT
NM_000465.4:c.1833_1834insTT MANE Select NP_000456.2:p.Asp612LeufsTer8
NM_001282543.2:c.1776_1777insTT NP_001269472.1:p.Asp593LeufsTer8
NM_001282545.2:c.480_481insTT NP_001269474.1:p.Asp161LeufsTer8
NM_001282548.2:c.423_424insTT NP_001269477.1:p.Asp142LeufsTer8
NM_001282549.2:c.365-14629_365-14628insTT NP_001269478.1:n.365-14629_365-14628insTT
NR_104212.2:n.1798_1799insTT
NR_104215.2:n.1741_1742insTT
NR_104216.2:n.997_998insTT