Canonical Allele Identifier: CA3249308017
Community Standard Title: NM_000465.4(BARD1):c.1318_1320del (p.Asp440del)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214769308_214769310del , CM000664.2:g.214769308_214769310del GRCh38
NC_000002.11:g.215634032_215634034del , CM000664.1:g.215634032_215634034del GRCh37
NC_000002.10:g.215342277_215342279del NCBI36
NG_012047.2:g.45396_45398del
NG_012047.3:g.45403_45405del

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.1318_1320del MANE Select NP_000456.2:p.Asp440del
ENST00000260947.9:c.1318_1320del MANE Select ENSP00000260947.4:p.Asp440del
NM_000465.3:c.1318_1320del NP_000456.2:p.Asp440del
NM_001282543.1:c.1261_1263del NP_001269472.1:p.Asp421del
NM_001282543.2:c.1261_1263del NP_001269472.1:p.Asp421del
NM_001282545.1:c.216-16754_216-16752del NP_001269474.1:n.216-16754_216-16752del
NM_001282545.2:c.216-16754_216-16752del NP_001269474.1:n.216-16754_216-16752del
NM_001282548.1:c.159-16754_159-16752del NP_001269477.1:n.159-16754_159-16752del
NM_001282548.2:c.159-16754_159-16752del NP_001269477.1:n.159-16754_159-16752del
NM_001282549.1:c.364+22988_364+22990del NP_001269478.1:n.364+22988_364+22990del
NM_001282549.2:c.364+22988_364+22990del NP_001269478.1:n.364+22988_364+22990del
NR_104212.1:n.1311_1313del
NR_104212.2:n.1283_1285del
NR_104215.1:n.1254_1256del
NR_104215.2:n.1226_1228del
NR_104216.1:n.510_512del
NR_104216.2:n.482_484del
ENST00000260947.8:c.1318_1320del ENSP00000260947.4:p.Asp440del
ENST00000421162.1:c.216-16754_216-16752del ENSP00000392245.1:n.216-16754_216-16752del
ENST00000421162.2:c.216-16754_216-16752del ENSP00000392245.2:n.216-16754_216-16752del
ENST00000455743.5:c.*938_*940del ENSP00000412186.1:n.*938_*940del
ENST00000613192.1:c.74-38801_74-38799del ENSP00000483275.1:n.74-38801_74-38799del
ENST00000613192.2:c.159-38801_159-38799del ENSP00000483275.2:n.159-38801_159-38799del
ENST00000613374.4:c.159-16754_159-16752del ENSP00000484464.1:n.159-16754_159-16752del
ENST00000613374.5:c.159-16754_159-16752del ENSP00000484464.1:n.159-16754_159-16752del
ENST00000613706.4:c.216-16754_216-16752del ENSP00000484976.1:n.216-16754_216-16752del
ENST00000613706.5:c.910_912del ENSP00000484976.2:p.Asp304del
ENST00000617164.4:c.1261_1263del ENSP00000480470.1:p.Asp421del
ENST00000617164.5:c.1261_1263del ENSP00000480470.1:p.Asp421del
ENST00000619009.4:c.364+22988_364+22990del ENSP00000482293.1:n.364+22988_364+22990del
ENST00000619009.5:c.364+22988_364+22990del ENSP00000482293.1:n.364+22988_364+22990del
ENST00000620057.4:c.368_370del ENSP00000481988.1:p.Arg123del
ENST00000650978.1:c.2693_2695del
XM_011511567.1:c.1264_1266del XP_011509869.1:p.Asp422del
XM_011511568.1:c.1318_1320del XP_011509870.1:p.Asp440del
XM_017004613.1:c.1417_1419del XP_016860102.1:p.Asp473del
XM_017004614.1:c.1417_1419del XP_016860103.1:p.Asp473del
XR_002959322.1:n.1508_1510del