Canonical Allele Identifier: CA1327070989

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780685_214780686delinsAA , CM000664.2:g.214780685_214780686delinsAA	GRCh38
NC_000002.11:g.215645409_215645410delinsAA , CM000664.1:g.215645409_215645410delinsAA	GRCh37
NC_000002.10:g.215353654_215353655delinsAA	NCBI36
NG_012047.2:g.34019_34020delinsTT
NG_012047.3:g.34026_34027delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1188_1189delinsTT MANE Select	ENSP00000260947.4:p.Pro396=
ENST00000421162.2:c.215+16375_215+16376delinsTT	ENSP00000392245.2:n.215+16375_215+16376delinsTT
ENST00000613192.2:c.158+28726_158+28727delinsTT	ENSP00000483275.2:n.158+28726_158+28727delinsTT
ENST00000613374.5:c.159-28131_159-28130delinsTT	ENSP00000484464.1:n.159-28131_159-28130delinsTT
ENST00000613706.5:c.906+282_906+283delinsTT	ENSP00000484976.2:n.906+282_906+283delinsTT
ENST00000617164.5:c.1131_1132delinsTT	ENSP00000480470.1:p.Pro377=
ENST00000619009.5:c.364+11611_364+11612delinsTT	ENSP00000482293.1:n.364+11611_364+11612delinsTT
ENST00000650978.1:c.1030_1031delinsTT
ENST00000260947.8:c.1188_1189delinsTT	ENSP00000260947.4:p.Pro396=
ENST00000421162.1:c.215+16375_215+16376delinsTT	ENSP00000392245.1:n.215+16375_215+16376delinsTT
ENST00000455743.5:c.*808_*809delinsTT	ENSP00000412186.1:n.*808_*809delinsTT
ENST00000613192.1:c.73+28726_73+28727delinsTT	ENSP00000483275.1:n.73+28726_73+28727delinsTT
ENST00000613374.4:c.159-28131_159-28130delinsTT	ENSP00000484464.1:n.159-28131_159-28130delinsTT
ENST00000613706.4:c.215+16375_215+16376delinsTT	ENSP00000484976.1:n.215+16375_215+16376delinsTT
ENST00000617164.4:c.1131_1132delinsTT	ENSP00000480470.1:p.Pro377=
ENST00000619009.4:c.364+11611_364+11612delinsTT	ENSP00000482293.1:n.364+11611_364+11612delinsTT
ENST00000620057.4:c.365-11374_365-11373delinsTT	ENSP00000481988.1:n.365-11374_365-11373delinsTT
NM_000465.3:c.1188_1189delinsTT	NP_000456.2:p.Pro396=
NM_001282543.1:c.1131_1132delinsTT	NP_001269472.1:p.Pro377=
NM_001282545.1:c.215+16375_215+16376delinsTT	NP_001269474.1:n.215+16375_215+16376delinsTT
NM_001282548.1:c.159-28131_159-28130delinsTT	NP_001269477.1:n.159-28131_159-28130delinsTT
NM_001282549.1:c.364+11611_364+11612delinsTT	NP_001269478.1:n.364+11611_364+11612delinsTT
NR_104212.1:n.1181_1182delinsTT
NR_104215.1:n.1124_1125delinsTT
NR_104216.1:n.507-11374_507-11373delinsTT
XM_011511567.1:c.1134_1135delinsTT	XP_011509869.1:p.Pro378=
XM_011511568.1:c.1188_1189delinsTT	XP_011509870.1:p.Pro396=
XM_017004613.1:c.1287_1288delinsTT	XP_016860102.1:p.Pro429=
XM_017004614.1:c.1287_1288delinsTT	XP_016860103.1:p.Pro429=
XR_002959322.1:n.1378_1379delinsTT
NM_000465.4:c.1188_1189delinsTT MANE Select	NP_000456.2:p.Pro396=
NM_001282543.2:c.1131_1132delinsTT	NP_001269472.1:p.Pro377=
NM_001282545.2:c.215+16375_215+16376delinsTT	NP_001269474.1:n.215+16375_215+16376delinsTT
NM_001282548.2:c.159-28131_159-28130delinsTT	NP_001269477.1:n.159-28131_159-28130delinsTT
NM_001282549.2:c.364+11611_364+11612delinsTT	NP_001269478.1:n.364+11611_364+11612delinsTT
NR_104212.2:n.1153_1154delinsTT
NR_104215.2:n.1096_1097delinsTT
NR_104216.2:n.479-11374_479-11373delinsTT