Canonical Allele Identifier: CA3273050998
Community Standard Title: NM_000465.4(BARD1):c.1868_1869delinsAA (p.Gly623Glu)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745101_214745102delinsTT , CM000664.2:g.214745101_214745102delinsTT GRCh38
NC_000002.11:g.215609825_215609826delinsTT , CM000664.1:g.215609825_215609826delinsTT GRCh37
NC_000002.10:g.215318070_215318071delinsTT NCBI36
NG_012047.2:g.69603_69604delinsAA
NG_012047.3:g.69610_69611delinsAA

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.1868_1869delinsAA MANE Select NP_000456.2:p.Gly623Glu
ENST00000260947.9:c.1868_1869delinsAA MANE Select ENSP00000260947.4:p.Gly623Glu
NM_000465.3:c.1868_1869delinsAA NP_000456.2:p.Gly623Glu
NM_001282543.1:c.1811_1812delinsAA NP_001269472.1:p.Gly604Glu
NM_001282543.2:c.1811_1812delinsAA NP_001269472.1:p.Gly604Glu
NM_001282545.1:c.515_516delinsAA NP_001269474.1:p.Gly172Glu
NM_001282545.2:c.515_516delinsAA NP_001269474.1:p.Gly172Glu
NM_001282548.1:c.458_459delinsAA NP_001269477.1:p.Gly153Glu
NM_001282548.2:c.458_459delinsAA NP_001269477.1:p.Gly153Glu
NM_001282549.1:c.365-14594_365-14593delinsAA NP_001269478.1:n.365-14594_365-14593delinsAA
NM_001282549.2:c.365-14594_365-14593delinsAA NP_001269478.1:n.365-14594_365-14593delinsAA
NR_104212.1:n.1861_1862delinsAA
NR_104212.2:n.1833_1834delinsAA
NR_104215.1:n.1804_1805delinsAA
NR_104215.2:n.1776_1777delinsAA
NR_104216.1:n.1060_1061delinsAA
NR_104216.2:n.1032_1033delinsAA
ENST00000260947.8:c.1868_1869delinsAA ENSP00000260947.4:p.Gly623Glu
ENST00000421162.1:c.515_516delinsAA ENSP00000392245.1:p.Gly172Glu
ENST00000421162.2:c.515_516delinsAA ENSP00000392245.2:p.Gly172Glu
ENST00000455743.5:c.*1488_*1489delinsAA ENSP00000412186.1:n.*1488_*1489delinsAA
ENST00000613192.1:c.74-14594_74-14593delinsAA ENSP00000483275.1:n.74-14594_74-14593delinsAA
ENST00000613192.2:c.159-14594_159-14593delinsAA ENSP00000483275.2:n.159-14594_159-14593delinsAA
ENST00000613374.4:c.458_459delinsAA ENSP00000484464.1:p.Gly153Glu
ENST00000613374.5:c.458_459delinsAA ENSP00000484464.1:p.Gly153Glu
ENST00000613706.4:c.515_516delinsAA ENSP00000484976.1:p.Gly172Glu
ENST00000613706.5:c.1460_1461delinsAA ENSP00000484976.2:p.Gly487Glu
ENST00000617164.4:c.1811_1812delinsAA ENSP00000480470.1:p.Gly604Glu
ENST00000617164.5:c.1811_1812delinsAA ENSP00000480470.1:p.Gly604Glu
ENST00000619009.4:c.365-14594_365-14593delinsAA ENSP00000482293.1:n.365-14594_365-14593delinsAA
ENST00000619009.5:c.365-14594_365-14593delinsAA ENSP00000482293.1:n.365-14594_365-14593delinsAA
ENST00000620057.4:c.*534_*535delinsAA ENSP00000481988.1:n.*534_*535delinsAA
ENST00000650978.1:c.3243_3244delinsAA
XM_011511567.1:c.1814_1815delinsAA XP_011509869.1:p.Gly605Glu
XM_011511568.1:c.1868_1869delinsAA XP_011509870.1:p.Gly623Glu
XM_017004613.1:c.1967_1968delinsAA XP_016860102.1:p.Gly656Glu
XM_017004614.1:c.1967_1968delinsAA XP_016860103.1:p.Gly656Glu
XR_002959322.1:n.2058_2059delinsAA