Canonical Allele Identifier: CA3249310425

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745794_214745796del , CM000664.2:g.214745794_214745796del	GRCh38
NC_000002.11:g.215610518_215610520del , CM000664.1:g.215610518_215610520del	GRCh37
NC_000002.10:g.215318763_215318765del	NCBI36
NG_012047.2:g.68909_68911del
NG_012047.3:g.68916_68918del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1736_1738del MANE Select	NP_000456.2:p.Ser579Ter
ENST00000260947.9:c.1736_1738del MANE Select	ENSP00000260947.4:p.Ser579Ter
NM_000465.3:c.1736_1738del	NP_000456.2:p.Ser579Ter
NM_001282543.1:c.1679_1681del	NP_001269472.1:p.Ser560Ter
NM_001282543.2:c.1679_1681del	NP_001269472.1:p.Ser560Ter
NM_001282545.1:c.383_385del	NP_001269474.1:p.Ser128Ter
NM_001282545.2:c.383_385del	NP_001269474.1:p.Ser128Ter
NM_001282548.1:c.326_328del	NP_001269477.1:p.Ser109Ter
NM_001282548.2:c.326_328del	NP_001269477.1:p.Ser109Ter
NM_001282549.1:c.365-15288_365-15286del	NP_001269478.1:n.365-15288_365-15286del
NM_001282549.2:c.365-15288_365-15286del	NP_001269478.1:n.365-15288_365-15286del
NR_104212.1:n.1729_1731del
NR_104212.2:n.1701_1703del
NR_104215.1:n.1672_1674del
NR_104215.2:n.1644_1646del
NR_104216.1:n.928_930del
NR_104216.2:n.900_902del
ENST00000260947.8:c.1736_1738del	ENSP00000260947.4:p.Ser579Ter
ENST00000421162.1:c.383_385del	ENSP00000392245.1:p.Ser128Ter
ENST00000421162.2:c.383_385del	ENSP00000392245.2:p.Ser128Ter
ENST00000455743.5:c.*1356_*1358del	ENSP00000412186.1:n.*1356_*1358del
ENST00000465841.1:n.91_93del
ENST00000613192.1:c.74-15288_74-15286del	ENSP00000483275.1:n.74-15288_74-15286del
ENST00000613192.2:c.159-15288_159-15286del	ENSP00000483275.2:n.159-15288_159-15286del
ENST00000613374.4:c.326_328del	ENSP00000484464.1:p.Ser109Ter
ENST00000613374.5:c.326_328del	ENSP00000484464.1:p.Ser109Ter
ENST00000613706.4:c.383_385del	ENSP00000484976.1:p.Ser128Ter
ENST00000613706.5:c.1328_1330del	ENSP00000484976.2:p.Ser443Ter
ENST00000617164.4:c.1679_1681del	ENSP00000480470.1:p.Ser560Ter
ENST00000617164.5:c.1679_1681del	ENSP00000480470.1:p.Ser560Ter
ENST00000619009.4:c.365-15288_365-15286del	ENSP00000482293.1:n.365-15288_365-15286del
ENST00000619009.5:c.365-15288_365-15286del	ENSP00000482293.1:n.365-15288_365-15286del
ENST00000620057.4:c.*402_*404del	ENSP00000481988.1:n.*402_*404del
ENST00000650978.1:c.3111_3113del
XM_011511567.1:c.1682_1684del	XP_011509869.1:p.Ser561Ter
XM_011511568.1:c.1736_1738del	XP_011509870.1:p.Ser579Ter
XM_017004613.1:c.1835_1837del	XP_016860102.1:p.Ser612Ter
XM_017004614.1:c.1835_1837del	XP_016860103.1:p.Ser612Ter
XR_002959322.1:n.1926_1928del