Canonical Allele Identifier: CA915941706

Gene: BARD1

Linked Data

• ClinVar Variation Id: 801053
• ClinVar RCV Id: RCV000985351
• dbSNP Id: rs1574702200

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728758_214728764dup , CM000664.2:g.214728758_214728764dup	GRCh38
NC_000002.11:g.215593482_215593488dup , CM000664.1:g.215593482_215593488dup	GRCh37
NC_000002.10:g.215301727_215301733dup	NCBI36
NG_012047.2:g.85942_85948dup
NG_012047.3:g.85949_85955dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2247_2253dup MANE Select	ENSP00000260947.4:p.Gln752GlyfsTer22
ENST00000421162.2:c.894_900dup	ENSP00000392245.2:p.Gln301GlyfsTer22
ENST00000613192.2:c.*310_*316dup	ENSP00000483275.2:n.*310_*316dup
ENST00000613374.5:c.837_843dup	ENSP00000484464.1:p.Gln282GlyfsTer22
ENST00000613706.5:c.1839_1845dup	ENSP00000484976.2:p.Gln616GlyfsTer22
ENST00000617164.5:c.2190_2196dup	ENSP00000480470.1:p.Gln733GlyfsTer22
ENST00000619009.5:c.708_714dup	ENSP00000482293.1:p.Gln239GlyfsTer22
ENST00000650978.1:c.3622_3628dup
ENST00000260947.8:c.2247_2253dup	ENSP00000260947.4:p.Gln752GlyfsTer22
ENST00000432456.5:c.390_396dup
ENST00000455743.5:c.*1867_*1873dup	ENSP00000412186.1:n.*1867_*1873dup
ENST00000471590.5:n.582_588dup
ENST00000613192.1:c.417_423dup	ENSP00000483275.1:p.Gln142GlyfsTer22
ENST00000613374.4:c.837_843dup	ENSP00000484464.1:p.Gln282GlyfsTer22
ENST00000613706.4:c.894_900dup	ENSP00000484976.1:p.Gln301GlyfsTer22
ENST00000617164.4:c.2190_2196dup	ENSP00000480470.1:p.Gln733GlyfsTer22
ENST00000619009.4:c.708_714dup	ENSP00000482293.1:p.Gln239GlyfsTer22
ENST00000620057.4:c.*913_*919dup	ENSP00000481988.1:n.*913_*919dup
NM_000465.3:c.2247_2253dup	NP_000456.2:p.Gln752GlyfsTer22
NM_001282543.1:c.2190_2196dup	NP_001269472.1:p.Gln733GlyfsTer22
NM_001282545.1:c.894_900dup	NP_001269474.1:p.Gln301GlyfsTer22
NM_001282548.1:c.837_843dup	NP_001269477.1:p.Gln282GlyfsTer22
NM_001282549.1:c.708_714dup	NP_001269478.1:p.Gln239GlyfsTer22
NR_104212.1:n.2240_2246dup
NR_104215.1:n.2183_2189dup
NR_104216.1:n.1439_1445dup
XM_011511567.1:c.2193_2199dup	XP_011509869.1:p.Gln734GlyfsTer22
XM_017004613.1:c.2346_2352dup	XP_016860102.1:p.Gln785GlyfsTer22
XR_002959322.1:n.2613_2619dup
NM_000465.4:c.2247_2253dup MANE Select	NP_000456.2:p.Gln752GlyfsTer22
NM_001282543.2:c.2190_2196dup	NP_001269472.1:p.Gln733GlyfsTer22
NM_001282545.2:c.894_900dup	NP_001269474.1:p.Gln301GlyfsTer22
NM_001282548.2:c.837_843dup	NP_001269477.1:p.Gln282GlyfsTer22
NM_001282549.2:c.708_714dup	NP_001269478.1:p.Gln239GlyfsTer22
NR_104212.2:n.2212_2218dup
NR_104215.2:n.2155_2161dup
NR_104216.2:n.1411_1417dup