Canonical Allele Identifier: CA3249308692

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792310_214792312del , CM000664.2:g.214792310_214792312del	GRCh38
NC_000002.11:g.215657034_215657036del , CM000664.1:g.215657034_215657036del	GRCh37
NC_000002.10:g.215365279_215365281del	NCBI36
NG_012047.2:g.22393_22395del
NG_012047.3:g.22400_22402del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.349_351del MANE Select	NP_000456.2:p.Asp117del
ENST00000260947.9:c.349_351del MANE Select	ENSP00000260947.4:p.Asp117del
NM_000465.3:c.349_351del	NP_000456.2:p.Asp117del
NM_001282543.1:c.292_294del	NP_001269472.1:p.Asp98del
NM_001282543.2:c.292_294del	NP_001269472.1:p.Asp98del
NM_001282545.1:c.215+4749_215+4751del	NP_001269474.1:n.215+4749_215+4751del
NM_001282545.2:c.215+4749_215+4751del	NP_001269474.1:n.215+4749_215+4751del
NM_001282548.1:c.158+17100_158+17102del	NP_001269477.1:n.158+17100_158+17102del
NM_001282548.2:c.158+17100_158+17102del	NP_001269477.1:n.158+17100_158+17102del
NM_001282549.1:c.349_351del	NP_001269478.1:p.Asp117del
NM_001282549.2:c.349_351del	NP_001269478.1:p.Asp117del
NR_104212.1:n.357+4749_357+4751del
NR_104212.2:n.329+4749_329+4751del
NR_104215.1:n.301-10803_301-10801del
NR_104215.2:n.273-10803_273-10801del
NR_104216.1:n.491_493del
NR_104216.2:n.463_465del
ENST00000260947.8:c.349_351del	ENSP00000260947.4:p.Asp117del
ENST00000421162.1:c.215+4749_215+4751del	ENSP00000392245.1:n.215+4749_215+4751del
ENST00000421162.2:c.215+4749_215+4751del	ENSP00000392245.2:n.215+4749_215+4751del
ENST00000455743.5:c.215+4749_215+4751del	ENSP00000412186.1:n.215+4749_215+4751del
ENST00000471787.1:n.260-10803_260-10801del
ENST00000613192.1:c.73+17100_73+17102del	ENSP00000483275.1:n.73+17100_73+17102del
ENST00000613192.2:c.158+17100_158+17102del	ENSP00000483275.2:n.158+17100_158+17102del
ENST00000613374.4:c.158+17100_158+17102del	ENSP00000484464.1:n.158+17100_158+17102del
ENST00000613374.5:c.158+17100_158+17102del	ENSP00000484464.1:n.158+17100_158+17102del
ENST00000613706.4:c.215+4749_215+4751del	ENSP00000484976.1:n.215+4749_215+4751del
ENST00000613706.5:c.349_351del	ENSP00000484976.2:p.Asp117del
ENST00000617164.4:c.292_294del	ENSP00000480470.1:p.Asp98del
ENST00000617164.5:c.292_294del	ENSP00000480470.1:p.Asp98del
ENST00000619009.4:c.349_351del	ENSP00000482293.1:p.Asp117del
ENST00000619009.5:c.349_351del	ENSP00000482293.1:p.Asp117del
ENST00000620057.4:c.349_351del	ENSP00000481988.1:p.Asp117del
ENST00000650978.1:c.191_193del
XM_011511567.1:c.295_297del	XP_011509869.1:p.Asp99del
XM_011511568.1:c.349_351del	XP_011509870.1:p.Asp117del
XM_017004613.1:c.448_450del	XP_016860102.1:p.Asp150del
XM_017004614.1:c.448_450del	XP_016860103.1:p.Asp150del
XR_002959322.1:n.539_541del