Canonical Allele Identifier: CA3249308589

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728724_214728726del , CM000664.2:g.214728724_214728726del	GRCh38
NC_000002.11:g.215593448_215593450del , CM000664.1:g.215593448_215593450del	GRCh37
NC_000002.10:g.215301693_215301695del	NCBI36
NG_012047.2:g.85980_85982del
NG_012047.3:g.85987_85989del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.2285_2287del MANE Select	NP_000456.2:p.Trp762del
ENST00000260947.9:c.2285_2287del MANE Select	ENSP00000260947.4:p.Trp762del
NM_000465.3:c.2285_2287del	NP_000456.2:p.Trp762del
NM_001282543.1:c.2228_2230del	NP_001269472.1:p.Trp743del
NM_001282543.2:c.2228_2230del	NP_001269472.1:p.Trp743del
NM_001282545.1:c.932_934del	NP_001269474.1:p.Trp311del
NM_001282545.2:c.932_934del	NP_001269474.1:p.Trp311del
NM_001282548.1:c.875_877del	NP_001269477.1:p.Trp292del
NM_001282548.2:c.875_877del	NP_001269477.1:p.Trp292del
NM_001282549.1:c.746_748del	NP_001269478.1:p.Trp249del
NM_001282549.2:c.746_748del	NP_001269478.1:p.Trp249del
NR_104212.1:n.2278_2280del
NR_104212.2:n.2250_2252del
NR_104215.1:n.2221_2223del
NR_104215.2:n.2193_2195del
NR_104216.1:n.1477_1479del
NR_104216.2:n.1449_1451del
ENST00000260947.8:c.2285_2287del	ENSP00000260947.4:p.Trp762del
ENST00000421162.2:c.932_934del	ENSP00000392245.2:p.Trp311del
ENST00000432456.5:c.428_430del
ENST00000455743.5:c.*1905_*1907del	ENSP00000412186.1:n.*1905_*1907del
ENST00000471590.5:n.620_622del
ENST00000613192.1:c.455_457del	ENSP00000483275.1:p.Trp152del
ENST00000613192.2:c.*348_*350del	ENSP00000483275.2:n.*348_*350del
ENST00000613374.4:c.875_877del	ENSP00000484464.1:p.Trp292del
ENST00000613374.5:c.875_877del	ENSP00000484464.1:p.Trp292del
ENST00000613706.4:c.932_934del	ENSP00000484976.1:p.Trp311del
ENST00000613706.5:c.1877_1879del	ENSP00000484976.2:p.Trp626del
ENST00000617164.4:c.2228_2230del	ENSP00000480470.1:p.Trp743del
ENST00000617164.5:c.2228_2230del	ENSP00000480470.1:p.Trp743del
ENST00000619009.4:c.746_748del	ENSP00000482293.1:p.Trp249del
ENST00000619009.5:c.746_748del	ENSP00000482293.1:p.Trp249del
ENST00000620057.4:c.*951_*953del	ENSP00000481988.1:n.*951_*953del
ENST00000650978.1:c.3660_3662del
XM_011511567.1:c.2231_2233del	XP_011509869.1:p.Trp744del
XM_017004613.1:c.2384_2386del	XP_016860102.1:p.Trp795del
XR_002959322.1:n.2651_2653del