Canonical Allele Identifier: CA3044590028
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214767531_214767535delinsTGTGA , CM000664.2:g.214767531_214767535delinsTGTGA GRCh38
NC_000002.11:g.215632255_215632259delinsTGTGA , CM000664.1:g.215632255_215632259delinsTGTGA GRCh37
NC_000002.10:g.215340500_215340504delinsTGTGA NCBI36
NG_012047.2:g.47170_47174delinsTCACA
NG_012047.3:g.47177_47181delinsTCACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1515_1519delinsTCACA MANE Select ENSP00000260947.4:p.Val507Met
ENST00000421162.2:c.216-14980_216-14976delinsTCACA ENSP00000392245.2:n.216-14980_216-14976delinsTCACA
ENST00000613192.2:c.159-37027_159-37023delinsTCACA ENSP00000483275.2:n.159-37027_159-37023delinsTCACA
ENST00000613374.5:c.159-14980_159-14976delinsTCACA ENSP00000484464.1:n.159-14980_159-14976delinsTCACA
ENST00000613706.5:c.1107_1111delinsTCACA ENSP00000484976.2:p.Val371Met
ENST00000617164.5:c.1458_1462delinsTCACA ENSP00000480470.1:p.Val488Met
ENST00000619009.5:c.364+24762_364+24766delinsTCACA ENSP00000482293.1:n.364+24762_364+24766delinsTCACA
ENST00000650978.1:c.2890_2894delinsTCACA
ENST00000260947.8:c.1515_1519delinsTCACA ENSP00000260947.4:p.Val507Met
ENST00000421162.1:c.216-14980_216-14976delinsTCACA ENSP00000392245.1:n.216-14980_216-14976delinsTCACA
ENST00000455743.5:c.*1135_*1139delinsTCACA ENSP00000412186.1:n.*1135_*1139delinsTCACA
ENST00000613192.1:c.74-37027_74-37023delinsTCACA ENSP00000483275.1:n.74-37027_74-37023delinsTCACA
ENST00000613374.4:c.159-14980_159-14976delinsTCACA ENSP00000484464.1:n.159-14980_159-14976delinsTCACA
ENST00000613706.4:c.216-14980_216-14976delinsTCACA ENSP00000484976.1:n.216-14980_216-14976delinsTCACA
ENST00000617164.4:c.1458_1462delinsTCACA ENSP00000480470.1:p.Val488Met
ENST00000619009.4:c.364+24762_364+24766delinsTCACA ENSP00000482293.1:n.364+24762_364+24766delinsTCACA
ENST00000620057.4:c.*181_*185delinsTCACA ENSP00000481988.1:n.*181_*185delinsTCACA
NM_000465.3:c.1515_1519delinsTCACA NP_000456.2:p.Val507Met
NM_001282543.1:c.1458_1462delinsTCACA NP_001269472.1:p.Val488Met
NM_001282545.1:c.216-14980_216-14976delinsTCACA NP_001269474.1:n.216-14980_216-14976delinsTCACA
NM_001282548.1:c.159-14980_159-14976delinsTCACA NP_001269477.1:n.159-14980_159-14976delinsTCACA
NM_001282549.1:c.364+24762_364+24766delinsTCACA NP_001269478.1:n.364+24762_364+24766delinsTCACA
NR_104212.1:n.1508_1512delinsTCACA
NR_104215.1:n.1451_1455delinsTCACA
NR_104216.1:n.707_711delinsTCACA
XM_011511567.1:c.1461_1465delinsTCACA XP_011509869.1:p.Val489Met
XM_011511568.1:c.1515_1519delinsTCACA XP_011509870.1:p.Val507Met
XM_017004613.1:c.1614_1618delinsTCACA XP_016860102.1:p.Val540Met
XM_017004614.1:c.1614_1618delinsTCACA XP_016860103.1:p.Val540Met
XR_002959322.1:n.1705_1709delinsTCACA
NM_000465.4:c.1515_1519delinsTCACA MANE Select NP_000456.2:p.Val507Met
NM_001282543.2:c.1458_1462delinsTCACA NP_001269472.1:p.Val488Met
NM_001282545.2:c.216-14980_216-14976delinsTCACA NP_001269474.1:n.216-14980_216-14976delinsTCACA
NM_001282548.2:c.159-14980_159-14976delinsTCACA NP_001269477.1:n.159-14980_159-14976delinsTCACA
NM_001282549.2:c.364+24762_364+24766delinsTCACA NP_001269478.1:n.364+24762_364+24766delinsTCACA
NR_104212.2:n.1480_1484delinsTCACA
NR_104215.2:n.1423_1427delinsTCACA
NR_104216.2:n.679_683delinsTCACA