Canonical Allele Identifier: CA3249308729

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792312_214792314del , CM000664.2:g.214792312_214792314del	GRCh38
NC_000002.11:g.215657036_215657038del , CM000664.1:g.215657036_215657038del	GRCh37
NC_000002.10:g.215365281_215365283del	NCBI36
NG_012047.2:g.22392_22394del
NG_012047.3:g.22399_22401del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.348_350del MANE Select	NP_000456.2:p.Asp117del
ENST00000260947.9:c.348_350del MANE Select	ENSP00000260947.4:p.Asp117del
NM_000465.3:c.348_350del	NP_000456.2:p.Asp117del
NM_001282543.1:c.291_293del	NP_001269472.1:p.Asp98del
NM_001282543.2:c.291_293del	NP_001269472.1:p.Asp98del
NM_001282545.1:c.215+4748_215+4750del	NP_001269474.1:n.215+4748_215+4750del
NM_001282545.2:c.215+4748_215+4750del	NP_001269474.1:n.215+4748_215+4750del
NM_001282548.1:c.158+17099_158+17101del	NP_001269477.1:n.158+17099_158+17101del
NM_001282548.2:c.158+17099_158+17101del	NP_001269477.1:n.158+17099_158+17101del
NM_001282549.1:c.348_350del	NP_001269478.1:p.Asp117del
NM_001282549.2:c.348_350del	NP_001269478.1:p.Asp117del
NR_104212.1:n.357+4748_357+4750del
NR_104212.2:n.329+4748_329+4750del
NR_104215.1:n.301-10804_301-10802del
NR_104215.2:n.273-10804_273-10802del
NR_104216.1:n.490_492del
NR_104216.2:n.462_464del
ENST00000260947.8:c.348_350del	ENSP00000260947.4:p.Asp117del
ENST00000421162.1:c.215+4748_215+4750del	ENSP00000392245.1:n.215+4748_215+4750del
ENST00000421162.2:c.215+4748_215+4750del	ENSP00000392245.2:n.215+4748_215+4750del
ENST00000455743.5:c.215+4748_215+4750del	ENSP00000412186.1:n.215+4748_215+4750del
ENST00000471787.1:n.260-10804_260-10802del
ENST00000613192.1:c.73+17099_73+17101del	ENSP00000483275.1:n.73+17099_73+17101del
ENST00000613192.2:c.158+17099_158+17101del	ENSP00000483275.2:n.158+17099_158+17101del
ENST00000613374.4:c.158+17099_158+17101del	ENSP00000484464.1:n.158+17099_158+17101del
ENST00000613374.5:c.158+17099_158+17101del	ENSP00000484464.1:n.158+17099_158+17101del
ENST00000613706.4:c.215+4748_215+4750del	ENSP00000484976.1:n.215+4748_215+4750del
ENST00000613706.5:c.348_350del	ENSP00000484976.2:p.Asp117del
ENST00000617164.4:c.291_293del	ENSP00000480470.1:p.Asp98del
ENST00000617164.5:c.291_293del	ENSP00000480470.1:p.Asp98del
ENST00000619009.4:c.348_350del	ENSP00000482293.1:p.Asp117del
ENST00000619009.5:c.348_350del	ENSP00000482293.1:p.Asp117del
ENST00000620057.4:c.348_350del	ENSP00000481988.1:p.Asp117del
ENST00000650978.1:c.190_192del
XM_011511567.1:c.294_296del	XP_011509869.1:p.Asp99del
XM_011511568.1:c.348_350del	XP_011509870.1:p.Asp117del
XM_017004613.1:c.447_449del	XP_016860102.1:p.Asp150del
XM_017004614.1:c.447_449del	XP_016860103.1:p.Asp150del
XR_002959322.1:n.538_540del