Canonical Allele Identifier: CA1327076739
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792432_214792436delinsCACTT , CM000664.2:g.214792432_214792436delinsCACTT GRCh38
NC_000002.11:g.215657156_215657160delinsCACTT , CM000664.1:g.215657156_215657160delinsCACTT GRCh37
NC_000002.10:g.215365401_215365405delinsCACTT NCBI36
NG_012047.2:g.22269_22273delinsAAGTG
NG_012047.3:g.22276_22280delinsAAGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.225_229delinsAAGTG MANE Select ENSP00000260947.4:p.Val75=
ENST00000421162.2:c.215+4625_215+4629delinsAAGTG ENSP00000392245.2:n.215+4625_215+4629delinsAAGTG
ENST00000613192.2:c.158+16976_158+16980delinsAAGTG ENSP00000483275.2:n.158+16976_158+16980delinsAAGTG
ENST00000613374.5:c.158+16976_158+16980delinsAAGTG ENSP00000484464.1:n.158+16976_158+16980delinsAAGTG
ENST00000613706.5:c.225_229delinsAAGTG ENSP00000484976.2:p.Val75=
ENST00000617164.5:c.168_172delinsAAGTG ENSP00000480470.1:p.Val56=
ENST00000619009.5:c.225_229delinsAAGTG ENSP00000482293.1:p.Val75=
ENST00000650978.1:c.67_71delinsAAGTG
ENST00000260947.8:c.225_229delinsAAGTG ENSP00000260947.4:p.Val75=
ENST00000421162.1:c.215+4625_215+4629delinsAAGTG ENSP00000392245.1:n.215+4625_215+4629delinsAAGTG
ENST00000455743.5:c.215+4625_215+4629delinsAAGTG ENSP00000412186.1:n.215+4625_215+4629delinsAAGTG
ENST00000471787.1:n.260-10927_260-10923delinsAAGTG
ENST00000613192.1:c.73+16976_73+16980delinsAAGTG ENSP00000483275.1:n.73+16976_73+16980delinsAAGTG
ENST00000613374.4:c.158+16976_158+16980delinsAAGTG ENSP00000484464.1:n.158+16976_158+16980delinsAAGTG
ENST00000613706.4:c.215+4625_215+4629delinsAAGTG ENSP00000484976.1:n.215+4625_215+4629delinsAAGTG
ENST00000617164.4:c.168_172delinsAAGTG ENSP00000480470.1:p.Val56=
ENST00000619009.4:c.225_229delinsAAGTG ENSP00000482293.1:p.Val75=
ENST00000620057.4:c.225_229delinsAAGTG ENSP00000481988.1:p.Val75=
NM_000465.3:c.225_229delinsAAGTG NP_000456.2:p.Val75=
NM_001282543.1:c.168_172delinsAAGTG NP_001269472.1:p.Val56=
NM_001282545.1:c.215+4625_215+4629delinsAAGTG NP_001269474.1:n.215+4625_215+4629delinsAAGTG
NM_001282548.1:c.158+16976_158+16980delinsAAGTG NP_001269477.1:n.158+16976_158+16980delinsAAGTG
NM_001282549.1:c.225_229delinsAAGTG NP_001269478.1:p.Val75=
NR_104212.1:n.357+4625_357+4629delinsAAGTG
NR_104215.1:n.301-10927_301-10923delinsAAGTG
NR_104216.1:n.367_371delinsAAGTG
XM_011511567.1:c.171_175delinsAAGTG XP_011509869.1:p.Val57=
XM_011511568.1:c.225_229delinsAAGTG XP_011509870.1:p.Val75=
XM_017004613.1:c.324_328delinsAAGTG XP_016860102.1:p.Val108=
XM_017004614.1:c.324_328delinsAAGTG XP_016860103.1:p.Val108=
XR_002959322.1:n.415_419delinsAAGTG
NM_000465.4:c.225_229delinsAAGTG MANE Select NP_000456.2:p.Val75=
NM_001282543.2:c.168_172delinsAAGTG NP_001269472.1:p.Val56=
NM_001282545.2:c.215+4625_215+4629delinsAAGTG NP_001269474.1:n.215+4625_215+4629delinsAAGTG
NM_001282548.2:c.158+16976_158+16980delinsAAGTG NP_001269477.1:n.158+16976_158+16980delinsAAGTG
NM_001282549.2:c.225_229delinsAAGTG NP_001269478.1:p.Val75=
NR_104212.2:n.329+4625_329+4629delinsAAGTG
NR_104215.2:n.273-10927_273-10923delinsAAGTG
NR_104216.2:n.339_343delinsAAGTG