Canonical Allele Identifier: CA2580616672

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1781414
• ClinVar RCV Id: RCV002413101

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745110_214745113dup , CM000664.2:g.214745110_214745113dup	GRCh38
NC_000002.11:g.215609834_215609837dup , CM000664.1:g.215609834_215609837dup	GRCh37
NC_000002.10:g.215318079_215318082dup	NCBI36
NG_012047.2:g.69592_69595dup
NG_012047.3:g.69599_69602dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1857_1860dup MANE Select	ENSP00000260947.4:p.Met621ValfsTer15
ENST00000421162.2:c.504_507dup	ENSP00000392245.2:p.Met170ValfsTer15
ENST00000613192.2:c.159-14605_159-14602dup	ENSP00000483275.2:n.159-14605_159-14602du...
ENST00000613374.5:c.447_450dup	ENSP00000484464.1:p.Met151ValfsTer15
ENST00000613706.5:c.1449_1452dup	ENSP00000484976.2:p.Met485ValfsTer15
ENST00000617164.5:c.1800_1803dup	ENSP00000480470.1:p.Met602ValfsTer15
ENST00000619009.5:c.365-14605_365-14602dup	ENSP00000482293.1:n.365-14605_365-14602du...
ENST00000650978.1:c.3232_3235dup
ENST00000260947.8:c.1857_1860dup	ENSP00000260947.4:p.Met621ValfsTer15
ENST00000421162.1:c.504_507dup	ENSP00000392245.1:p.Met170ValfsTer15
ENST00000455743.5:c.*1477_*1480dup	ENSP00000412186.1:n.*1477_*1480dup
ENST00000613192.1:c.74-14605_74-14602dup	ENSP00000483275.1:n.74-14605_74-14602dup
ENST00000613374.4:c.447_450dup	ENSP00000484464.1:p.Met151ValfsTer15
ENST00000613706.4:c.504_507dup	ENSP00000484976.1:p.Met170ValfsTer15
ENST00000617164.4:c.1800_1803dup	ENSP00000480470.1:p.Met602ValfsTer15
ENST00000619009.4:c.365-14605_365-14602dup	ENSP00000482293.1:n.365-14605_365-14602du...
ENST00000620057.4:c.*523_*526dup	ENSP00000481988.1:n.*523_*526dup
NM_000465.3:c.1857_1860dup	NP_000456.2:p.Met621ValfsTer15
NM_001282543.1:c.1800_1803dup	NP_001269472.1:p.Met602ValfsTer15
NM_001282545.1:c.504_507dup	NP_001269474.1:p.Met170ValfsTer15
NM_001282548.1:c.447_450dup	NP_001269477.1:p.Met151ValfsTer15
NM_001282549.1:c.365-14605_365-14602dup	NP_001269478.1:n.365-14605_365-14602dup
NR_104212.1:n.1850_1853dup
NR_104215.1:n.1793_1796dup
NR_104216.1:n.1049_1052dup
XM_011511567.1:c.1803_1806dup	XP_011509869.1:p.Met603ValfsTer15
XM_011511568.1:c.1857_1860dup	XP_011509870.1:p.Met621ValfsTer15
XM_017004613.1:c.1956_1959dup	XP_016860102.1:p.Met654ValfsTer15
XM_017004614.1:c.1956_1959dup	XP_016860103.1:p.Met654ValfsTer15
XR_002959322.1:n.2047_2050dup
NM_000465.4:c.1857_1860dup MANE Select	NP_000456.2:p.Met621ValfsTer15
NM_001282543.2:c.1800_1803dup	NP_001269472.1:p.Met602ValfsTer15
NM_001282545.2:c.504_507dup	NP_001269474.1:p.Met170ValfsTer15
NM_001282548.2:c.447_450dup	NP_001269477.1:p.Met151ValfsTer15
NM_001282549.2:c.365-14605_365-14602dup	NP_001269478.1:n.365-14605_365-14602dup
NR_104212.2:n.1822_1825dup
NR_104215.2:n.1765_1768dup
NR_104216.2:n.1021_1024dup