Canonical Allele Identifier: CA3249308818

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728743_214728745del , CM000664.2:g.214728743_214728745del	GRCh38
NC_000002.11:g.215593467_215593469del , CM000664.1:g.215593467_215593469del	GRCh37
NC_000002.10:g.215301712_215301714del	NCBI36
NG_012047.2:g.85960_85962del
NG_012047.3:g.85967_85969del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.2265_2267del MANE Select	NP_000456.2:p.Trp756del
ENST00000260947.9:c.2265_2267del MANE Select	ENSP00000260947.4:p.Trp756del
NM_000465.3:c.2265_2267del	NP_000456.2:p.Trp756del
NM_001282543.1:c.2208_2210del	NP_001269472.1:p.Trp737del
NM_001282543.2:c.2208_2210del	NP_001269472.1:p.Trp737del
NM_001282545.1:c.912_914del	NP_001269474.1:p.Trp305del
NM_001282545.2:c.912_914del	NP_001269474.1:p.Trp305del
NM_001282548.1:c.855_857del	NP_001269477.1:p.Trp286del
NM_001282548.2:c.855_857del	NP_001269477.1:p.Trp286del
NM_001282549.1:c.726_728del	NP_001269478.1:p.Trp243del
NM_001282549.2:c.726_728del	NP_001269478.1:p.Trp243del
NR_104212.1:n.2258_2260del
NR_104212.2:n.2230_2232del
NR_104215.1:n.2201_2203del
NR_104215.2:n.2173_2175del
NR_104216.1:n.1457_1459del
NR_104216.2:n.1429_1431del
ENST00000260947.8:c.2265_2267del	ENSP00000260947.4:p.Trp756del
ENST00000421162.2:c.912_914del	ENSP00000392245.2:p.Trp305del
ENST00000432456.5:c.408_410del
ENST00000455743.5:c.*1885_*1887del	ENSP00000412186.1:n.*1885_*1887del
ENST00000471590.5:n.600_602del
ENST00000613192.1:c.435_437del	ENSP00000483275.1:p.Trp146del
ENST00000613192.2:c.*328_*330del	ENSP00000483275.2:n.*328_*330del
ENST00000613374.4:c.855_857del	ENSP00000484464.1:p.Trp286del
ENST00000613374.5:c.855_857del	ENSP00000484464.1:p.Trp286del
ENST00000613706.4:c.912_914del	ENSP00000484976.1:p.Trp305del
ENST00000613706.5:c.1857_1859del	ENSP00000484976.2:p.Trp620del
ENST00000617164.4:c.2208_2210del	ENSP00000480470.1:p.Trp737del
ENST00000617164.5:c.2208_2210del	ENSP00000480470.1:p.Trp737del
ENST00000619009.4:c.726_728del	ENSP00000482293.1:p.Trp243del
ENST00000619009.5:c.726_728del	ENSP00000482293.1:p.Trp243del
ENST00000620057.4:c.*931_*933del	ENSP00000481988.1:n.*931_*933del
ENST00000650978.1:c.3640_3642del
XM_011511567.1:c.2211_2213del	XP_011509869.1:p.Trp738del
XM_017004613.1:c.2364_2366del	XP_016860102.1:p.Trp789del
XR_002959322.1:n.2631_2633del