Canonical Allele Identifier: CA1327057343

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752458_214752462delinsGGCTA , CM000664.2:g.214752458_214752462delinsGGCTA	GRCh38
NC_000002.11:g.215617182_215617186delinsGGCTA , CM000664.1:g.215617182_215617186delinsGGCTA	GRCh37
NC_000002.10:g.215325427_215325431delinsGGCTA	NCBI36
NG_012047.2:g.62243_62247delinsTAGCC
NG_012047.3:g.62250_62254delinsTAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1662_1666delinsTAGCC MANE Select	ENSP00000260947.4:p.Ala554=
ENST00000421162.2:c.309_313delinsTAGCC	ENSP00000392245.2:p.Ala103=
ENST00000613192.2:c.159-21954_159-21950delinsTAGCC	ENSP00000483275.2:n.159-21954_159-21950delinsTAGCC
ENST00000613374.5:c.252_256delinsTAGCC	ENSP00000484464.1:p.Ala84=
ENST00000613706.5:c.1254_1258delinsTAGCC	ENSP00000484976.2:p.Ala418=
ENST00000617164.5:c.1605_1609delinsTAGCC	ENSP00000480470.1:p.Ala535=
ENST00000619009.5:c.365-21954_365-21950delinsTAGCC	ENSP00000482293.1:n.365-21954_365-21950delinsTAGCC
ENST00000650978.1:c.3037_3041delinsTAGCC
ENST00000260947.8:c.1662_1666delinsTAGCC	ENSP00000260947.4:p.Ala554=
ENST00000421162.1:c.309_313delinsTAGCC	ENSP00000392245.1:p.Ala103=
ENST00000455743.5:c.*1282_*1286delinsTAGCC	ENSP00000412186.1:n.*1282_*1286delinsTAGCC
ENST00000465841.1:n.17_21delinsTAGCC
ENST00000613192.1:c.74-21954_74-21950delinsTAGCC	ENSP00000483275.1:n.74-21954_74-21950delinsTAGCC
ENST00000613374.4:c.252_256delinsTAGCC	ENSP00000484464.1:p.Ala84=
ENST00000613706.4:c.309_313delinsTAGCC	ENSP00000484976.1:p.Ala103=
ENST00000617164.4:c.1605_1609delinsTAGCC	ENSP00000480470.1:p.Ala535=
ENST00000619009.4:c.365-21954_365-21950delinsTAGCC	ENSP00000482293.1:n.365-21954_365-21950delinsTAGCC
ENST00000620057.4:c.*328_*332delinsTAGCC	ENSP00000481988.1:n.*328_*332delinsTAGCC
NM_000465.3:c.1662_1666delinsTAGCC	NP_000456.2:p.Ala554=
NM_001282543.1:c.1605_1609delinsTAGCC	NP_001269472.1:p.Ala535=
NM_001282545.1:c.309_313delinsTAGCC	NP_001269474.1:p.Ala103=
NM_001282548.1:c.252_256delinsTAGCC	NP_001269477.1:p.Ala84=
NM_001282549.1:c.365-21954_365-21950delinsTAGCC	NP_001269478.1:n.365-21954_365-21950delinsTAGCC
NR_104212.1:n.1655_1659delinsTAGCC
NR_104215.1:n.1598_1602delinsTAGCC
NR_104216.1:n.854_858delinsTAGCC
XM_011511567.1:c.1608_1612delinsTAGCC	XP_011509869.1:p.Ala536=
XM_011511568.1:c.1662_1666delinsTAGCC	XP_011509870.1:p.Ala554=
XM_017004613.1:c.1761_1765delinsTAGCC	XP_016860102.1:p.Ala587=
XM_017004614.1:c.1761_1765delinsTAGCC	XP_016860103.1:p.Ala587=
XR_002959322.1:n.1852_1856delinsTAGCC
NM_000465.4:c.1662_1666delinsTAGCC MANE Select	NP_000456.2:p.Ala554=
NM_001282543.2:c.1605_1609delinsTAGCC	NP_001269472.1:p.Ala535=
NM_001282545.2:c.309_313delinsTAGCC	NP_001269474.1:p.Ala103=
NM_001282548.2:c.252_256delinsTAGCC	NP_001269477.1:p.Ala84=
NM_001282549.2:c.365-21954_365-21950delinsTAGCC	NP_001269478.1:n.365-21954_365-21950delinsTAGCC
NR_104212.2:n.1627_1631delinsTAGCC
NR_104215.2:n.1570_1574delinsTAGCC
NR_104216.2:n.826_830delinsTAGCC