Canonical Allele Identifier: CA3249308918

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745083_214745085del , CM000664.2:g.214745083_214745085del	GRCh38
NC_000002.11:g.215609807_215609809del , CM000664.1:g.215609807_215609809del	GRCh37
NC_000002.10:g.215318052_215318054del	NCBI36
NG_012047.2:g.69620_69622del
NG_012047.3:g.69627_69629del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1885_1887del MANE Select	NP_000456.2:p.Trp629del
ENST00000260947.9:c.1885_1887del MANE Select	ENSP00000260947.4:p.Trp629del
NM_000465.3:c.1885_1887del	NP_000456.2:p.Trp629del
NM_001282543.1:c.1828_1830del	NP_001269472.1:p.Trp610del
NM_001282543.2:c.1828_1830del	NP_001269472.1:p.Trp610del
NM_001282545.1:c.532_534del	NP_001269474.1:p.Trp178del
NM_001282545.2:c.532_534del	NP_001269474.1:p.Trp178del
NM_001282548.1:c.475_477del	NP_001269477.1:p.Trp159del
NM_001282548.2:c.475_477del	NP_001269477.1:p.Trp159del
NM_001282549.1:c.365-14577_365-14575del	NP_001269478.1:n.365-14577_365-14575del
NM_001282549.2:c.365-14577_365-14575del	NP_001269478.1:n.365-14577_365-14575del
NR_104212.1:n.1878_1880del
NR_104212.2:n.1850_1852del
NR_104215.1:n.1821_1823del
NR_104215.2:n.1793_1795del
NR_104216.1:n.1077_1079del
NR_104216.2:n.1049_1051del
ENST00000260947.8:c.1885_1887del	ENSP00000260947.4:p.Trp629del
ENST00000421162.1:c.532_534del	ENSP00000392245.1:p.Trp178del
ENST00000421162.2:c.532_534del	ENSP00000392245.2:p.Trp178del
ENST00000455743.5:c.*1505_*1507del	ENSP00000412186.1:n.*1505_*1507del
ENST00000613192.1:c.74-14577_74-14575del	ENSP00000483275.1:n.74-14577_74-14575del
ENST00000613192.2:c.159-14577_159-14575del	ENSP00000483275.2:n.159-14577_159-14575del
ENST00000613374.4:c.475_477del	ENSP00000484464.1:p.Trp159del
ENST00000613374.5:c.475_477del	ENSP00000484464.1:p.Trp159del
ENST00000613706.4:c.532_534del	ENSP00000484976.1:p.Trp178del
ENST00000613706.5:c.1477_1479del	ENSP00000484976.2:p.Trp493del
ENST00000617164.4:c.1828_1830del	ENSP00000480470.1:p.Trp610del
ENST00000617164.5:c.1828_1830del	ENSP00000480470.1:p.Trp610del
ENST00000619009.4:c.365-14577_365-14575del	ENSP00000482293.1:n.365-14577_365-14575del
ENST00000619009.5:c.365-14577_365-14575del	ENSP00000482293.1:n.365-14577_365-14575del
ENST00000620057.4:c.*551_*553del	ENSP00000481988.1:n.*551_*553del
ENST00000650978.1:c.3260_3262del
XM_011511567.1:c.1831_1833del	XP_011509869.1:p.Trp611del
XM_011511568.1:c.1885_1887del	XP_011509870.1:p.Trp629del
XM_017004613.1:c.1984_1986del	XP_016860102.1:p.Trp662del
XM_017004614.1:c.1984_1986del	XP_016860103.1:p.Trp662del
XR_002959322.1:n.2075_2077del