Canonical Allele Identifier: CA3249308790

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745068_214745070del , CM000664.2:g.214745068_214745070del	GRCh38
NC_000002.11:g.215609792_215609794del , CM000664.1:g.215609792_215609794del	GRCh37
NC_000002.10:g.215318037_215318039del	NCBI36
NG_012047.2:g.69635_69637del
NG_012047.3:g.69642_69644del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1900_1902del MANE Select	NP_000456.2:p.Glu634del
ENST00000260947.9:c.1900_1902del MANE Select	ENSP00000260947.4:p.Glu634del
NM_000465.3:c.1900_1902del	NP_000456.2:p.Glu634del
NM_001282543.1:c.1843_1845del	NP_001269472.1:p.Glu615del
NM_001282543.2:c.1843_1845del	NP_001269472.1:p.Glu615del
NM_001282545.1:c.547_549del	NP_001269474.1:p.Glu183del
NM_001282545.2:c.547_549del	NP_001269474.1:p.Glu183del
NM_001282548.1:c.490_492del	NP_001269477.1:p.Glu164del
NM_001282548.2:c.490_492del	NP_001269477.1:p.Glu164del
NM_001282549.1:c.365-14562_365-14560del	NP_001269478.1:n.365-14562_365-14560del
NM_001282549.2:c.365-14562_365-14560del	NP_001269478.1:n.365-14562_365-14560del
NR_104212.1:n.1893_1895del
NR_104212.2:n.1865_1867del
NR_104215.1:n.1836_1838del
NR_104215.2:n.1808_1810del
NR_104216.1:n.1092_1094del
NR_104216.2:n.1064_1066del
ENST00000260947.8:c.1900_1902del	ENSP00000260947.4:p.Glu634del
ENST00000421162.1:c.547_549del	ENSP00000392245.1:p.Glu183del
ENST00000421162.2:c.547_549del	ENSP00000392245.2:p.Glu183del
ENST00000455743.5:c.*1520_*1522del	ENSP00000412186.1:n.*1520_*1522del
ENST00000613192.1:c.74-14562_74-14560del	ENSP00000483275.1:n.74-14562_74-14560del
ENST00000613192.2:c.159-14562_159-14560del	ENSP00000483275.2:n.159-14562_159-14560del
ENST00000613374.4:c.490_492del	ENSP00000484464.1:p.Glu164del
ENST00000613374.5:c.490_492del	ENSP00000484464.1:p.Glu164del
ENST00000613706.4:c.547_549del	ENSP00000484976.1:p.Glu183del
ENST00000613706.5:c.1492_1494del	ENSP00000484976.2:p.Glu498del
ENST00000617164.4:c.1843_1845del	ENSP00000480470.1:p.Glu615del
ENST00000617164.5:c.1843_1845del	ENSP00000480470.1:p.Glu615del
ENST00000619009.4:c.365-14562_365-14560del	ENSP00000482293.1:n.365-14562_365-14560del
ENST00000619009.5:c.365-14562_365-14560del	ENSP00000482293.1:n.365-14562_365-14560del
ENST00000620057.4:c.*566_*568del	ENSP00000481988.1:n.*566_*568del
ENST00000650978.1:c.3275_3277del
XM_011511567.1:c.1846_1848del	XP_011509869.1:p.Glu616del
XM_011511568.1:c.1900_1902del	XP_011509870.1:p.Glu634del
XM_017004613.1:c.1999_2001del	XP_016860102.1:p.Glu667del
XM_017004614.1:c.1999_2001del	XP_016860103.1:p.Glu667del
XR_002959322.1:n.2090_2092del