Canonical Allele Identifier: CA3249309089

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792331_214792333del , CM000664.2:g.214792331_214792333del	GRCh38
NC_000002.11:g.215657055_215657057del , CM000664.1:g.215657055_215657057del	GRCh37
NC_000002.10:g.215365300_215365302del	NCBI36
NG_012047.2:g.22372_22374del
NG_012047.3:g.22379_22381del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.328_330del MANE Select	NP_000456.2:p.Lys110del
ENST00000260947.9:c.328_330del MANE Select	ENSP00000260947.4:p.Lys110del
NM_000465.3:c.328_330del	NP_000456.2:p.Lys110del
NM_001282543.1:c.271_273del	NP_001269472.1:p.Lys91del
NM_001282543.2:c.271_273del	NP_001269472.1:p.Lys91del
NM_001282545.1:c.215+4728_215+4730del	NP_001269474.1:n.215+4728_215+4730del
NM_001282545.2:c.215+4728_215+4730del	NP_001269474.1:n.215+4728_215+4730del
NM_001282548.1:c.158+17079_158+17081del	NP_001269477.1:n.158+17079_158+17081del
NM_001282548.2:c.158+17079_158+17081del	NP_001269477.1:n.158+17079_158+17081del
NM_001282549.1:c.328_330del	NP_001269478.1:p.Lys110del
NM_001282549.2:c.328_330del	NP_001269478.1:p.Lys110del
NR_104212.1:n.357+4728_357+4730del
NR_104212.2:n.329+4728_329+4730del
NR_104215.1:n.301-10824_301-10822del
NR_104215.2:n.273-10824_273-10822del
NR_104216.1:n.470_472del
NR_104216.2:n.442_444del
ENST00000260947.8:c.328_330del	ENSP00000260947.4:p.Lys110del
ENST00000421162.1:c.215+4728_215+4730del	ENSP00000392245.1:n.215+4728_215+4730del
ENST00000421162.2:c.215+4728_215+4730del	ENSP00000392245.2:n.215+4728_215+4730del
ENST00000455743.5:c.215+4728_215+4730del	ENSP00000412186.1:n.215+4728_215+4730del
ENST00000471787.1:n.260-10824_260-10822del
ENST00000613192.1:c.73+17079_73+17081del	ENSP00000483275.1:n.73+17079_73+17081del
ENST00000613192.2:c.158+17079_158+17081del	ENSP00000483275.2:n.158+17079_158+17081del
ENST00000613374.4:c.158+17079_158+17081del	ENSP00000484464.1:n.158+17079_158+17081del
ENST00000613374.5:c.158+17079_158+17081del	ENSP00000484464.1:n.158+17079_158+17081del
ENST00000613706.4:c.215+4728_215+4730del	ENSP00000484976.1:n.215+4728_215+4730del
ENST00000613706.5:c.328_330del	ENSP00000484976.2:p.Lys110del
ENST00000617164.4:c.271_273del	ENSP00000480470.1:p.Lys91del
ENST00000617164.5:c.271_273del	ENSP00000480470.1:p.Lys91del
ENST00000619009.4:c.328_330del	ENSP00000482293.1:p.Lys110del
ENST00000619009.5:c.328_330del	ENSP00000482293.1:p.Lys110del
ENST00000620057.4:c.328_330del	ENSP00000481988.1:p.Lys110del
ENST00000650978.1:c.170_172del
XM_011511567.1:c.274_276del	XP_011509869.1:p.Lys92del
XM_011511568.1:c.328_330del	XP_011509870.1:p.Lys110del
XM_017004613.1:c.427_429del	XP_016860102.1:p.Lys143del
XM_017004614.1:c.427_429del	XP_016860103.1:p.Lys143del
XR_002959322.1:n.518_520del