Canonical Allele Identifier: CA3249308890
Community Standard Title: NM_000465.4(BARD1):c.339_341del (p.Asn113_Leu114delinsLys)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792320_214792322del , CM000664.2:g.214792320_214792322del GRCh38
NC_000002.11:g.215657044_215657046del , CM000664.1:g.215657044_215657046del GRCh37
NC_000002.10:g.215365289_215365291del NCBI36
NG_012047.2:g.22383_22385del
NG_012047.3:g.22390_22392del

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.339_341del MANE Select NP_000456.2:p.Asn113_Leu114delinsLys
ENST00000260947.9:c.339_341del MANE Select ENSP00000260947.4:p.Asn113_Leu114delinsLys
NM_000465.3:c.339_341del NP_000456.2:p.Asn113_Leu114delinsLys
NM_001282543.1:c.282_284del NP_001269472.1:p.Asn94_Leu95delinsLys
NM_001282543.2:c.282_284del NP_001269472.1:p.Asn94_Leu95delinsLys
NM_001282545.1:c.215+4739_215+4741del NP_001269474.1:n.215+4739_215+4741del
NM_001282545.2:c.215+4739_215+4741del NP_001269474.1:n.215+4739_215+4741del
NM_001282548.1:c.158+17090_158+17092del NP_001269477.1:n.158+17090_158+17092del
NM_001282548.2:c.158+17090_158+17092del NP_001269477.1:n.158+17090_158+17092del
NM_001282549.1:c.339_341del NP_001269478.1:p.Asn113_Leu114delinsLys
NM_001282549.2:c.339_341del NP_001269478.1:p.Asn113_Leu114delinsLys
NR_104212.1:n.357+4739_357+4741del
NR_104212.2:n.329+4739_329+4741del
NR_104215.1:n.301-10813_301-10811del
NR_104215.2:n.273-10813_273-10811del
NR_104216.1:n.481_483del
NR_104216.2:n.453_455del
ENST00000260947.8:c.339_341del ENSP00000260947.4:p.Asn113_Leu114delinsLys
ENST00000421162.1:c.215+4739_215+4741del ENSP00000392245.1:n.215+4739_215+4741del
ENST00000421162.2:c.215+4739_215+4741del ENSP00000392245.2:n.215+4739_215+4741del
ENST00000455743.5:c.215+4739_215+4741del ENSP00000412186.1:n.215+4739_215+4741del
ENST00000471787.1:n.260-10813_260-10811del
ENST00000613192.1:c.73+17090_73+17092del ENSP00000483275.1:n.73+17090_73+17092del
ENST00000613192.2:c.158+17090_158+17092del ENSP00000483275.2:n.158+17090_158+17092del
ENST00000613374.4:c.158+17090_158+17092del ENSP00000484464.1:n.158+17090_158+17092del
ENST00000613374.5:c.158+17090_158+17092del ENSP00000484464.1:n.158+17090_158+17092del
ENST00000613706.4:c.215+4739_215+4741del ENSP00000484976.1:n.215+4739_215+4741del
ENST00000613706.5:c.339_341del ENSP00000484976.2:p.Asn113_Leu114delinsLys
ENST00000617164.4:c.282_284del ENSP00000480470.1:p.Asn94_Leu95delinsLys
ENST00000617164.5:c.282_284del ENSP00000480470.1:p.Asn94_Leu95delinsLys
ENST00000619009.4:c.339_341del ENSP00000482293.1:p.Asn113_Leu114delinsLys
ENST00000619009.5:c.339_341del ENSP00000482293.1:p.Asn113_Leu114delinsLys
ENST00000620057.4:c.339_341del ENSP00000481988.1:p.Asn113_Leu114delinsLys
ENST00000650978.1:c.181_183del
XM_011511567.1:c.285_287del XP_011509869.1:p.Asn95_Leu96delinsLys
XM_011511568.1:c.339_341del XP_011509870.1:p.Asn113_Leu114delinsLys
XM_017004613.1:c.438_440del XP_016860102.1:p.Asn146_Leu147delinsLys
XM_017004614.1:c.438_440del XP_016860103.1:p.Asn146_Leu147delinsLys
XR_002959322.1:n.529_531del