Canonical Allele Identifier: CA16609655

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730457_214730458dup , CM000664.2:g.214730457_214730458dup	GRCh38
NC_000002.11:g.215595181_215595182dup , CM000664.1:g.215595181_215595182dup	GRCh37
NC_000002.10:g.215303426_215303427dup	NCBI36
NG_012047.2:g.84247_84248dup
NG_012047.3:g.84254_84255dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1954_1955dup MANE Select	ENSP00000260947.4:p.Ile653LysfsTer?
ENST00000421162.2:c.601_602dup	ENSP00000392245.2:p.Ile202LysfsTer?
ENST00000613192.2:c.*17_*18dup	ENSP00000483275.2:n.*17_*18dup
ENST00000613374.5:c.544_545dup	ENSP00000484464.1:p.Ile183LysfsTer?
ENST00000613706.5:c.1546_1547dup	ENSP00000484976.2:p.Ile517LysfsTer?
ENST00000617164.5:c.1897_1898dup	ENSP00000480470.1:p.Ile634LysfsTer?
ENST00000619009.5:c.415_416dup	ENSP00000482293.1:p.Ile140LysfsTer?
ENST00000650978.1:c.3329_3330dup
ENST00000260947.8:c.1954_1955dup	ENSP00000260947.4:p.Ile653LysfsTer?
ENST00000421162.1:c.601_602dup	ENSP00000392245.1:p.Ile202LysfsTer?
ENST00000432456.5:c.51_52dup
ENST00000455743.5:c.*1574_*1575dup	ENSP00000412186.1:n.*1574_*1575dup
ENST00000471590.5:n.289_290dup
ENST00000613192.1:c.124_125dup	ENSP00000483275.1:p.Ile43LysfsTer?
ENST00000613374.4:c.544_545dup	ENSP00000484464.1:p.Ile183LysfsTer?
ENST00000613706.4:c.601_602dup	ENSP00000484976.1:p.Ile202LysfsTer?
ENST00000617164.4:c.1897_1898dup	ENSP00000480470.1:p.Ile634LysfsTer?
ENST00000619009.4:c.415_416dup	ENSP00000482293.1:p.Ile140LysfsTer?
ENST00000620057.4:c.*620_*621dup	ENSP00000481988.1:n.*620_*621dup
NM_000465.3:c.1954_1955dup	NP_000456.2:p.Ile653LysfsTer?
NM_001282543.1:c.1897_1898dup	NP_001269472.1:p.Ile634LysfsTer?
NM_001282545.1:c.601_602dup	NP_001269474.1:p.Ile202LysfsTer?
NM_001282548.1:c.544_545dup	NP_001269477.1:p.Ile183LysfsTer?
NM_001282549.1:c.415_416dup	NP_001269478.1:p.Ile140LysfsTer?
NR_104212.1:n.1947_1948dup
NR_104215.1:n.1890_1891dup
NR_104216.1:n.1146_1147dup
XM_011511567.1:c.1900_1901dup	XP_011509869.1:p.Ile635LysfsTer?
XM_017004613.1:c.2053_2054dup	XP_016860102.1:p.Ile686LysfsTer?
XR_002959322.1:n.2144_2145dup
NM_000465.4:c.1954_1955dup MANE Select	NP_000456.2:p.Ile653LysfsTer?
NM_001282543.2:c.1897_1898dup	NP_001269472.1:p.Ile634LysfsTer?
NM_001282545.2:c.601_602dup	NP_001269474.1:p.Ile202LysfsTer?
NM_001282548.2:c.544_545dup	NP_001269477.1:p.Ile183LysfsTer?
NM_001282549.2:c.415_416dup	NP_001269478.1:p.Ile140LysfsTer?
NR_104212.2:n.1919_1920dup
NR_104215.2:n.1862_1863dup
NR_104216.2:n.1118_1119dup