Canonical Allele Identifier: CA539521789

Gene: BARD1

Linked Data

• dbSNP Id: rs1380440690
• gnomAD v2: 2-215657450-G-GT
• gnomAD v3: 2-214792726-G-GT
• gnomAD v4: 2-214792726-G-GT
• MyVariant Identifiers: chr2:g.215657450_215657451insT (hg19) ; chr2:g.214792726_214792727insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792727dup , CM000664.2:g.214792727dup	GRCh38
NC_000002.11:g.215657451dup , CM000664.1:g.215657451dup	GRCh37
NC_000002.10:g.215365696dup	NCBI36
NG_012047.2:g.21978dup
NG_012047.3:g.21985dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.216-282dup MANE Select	ENSP00000260947.4:n.216-282dup
ENST00000421162.2:c.215+4334dup	ENSP00000392245.2:n.215+4334dup
ENST00000613192.2:c.158+16685dup	ENSP00000483275.2:n.158+16685dup
ENST00000613374.5:c.158+16685dup	ENSP00000484464.1:n.158+16685dup
ENST00000613706.5:c.216-282dup	ENSP00000484976.2:n.216-282dup
ENST00000617164.5:c.159-282dup	ENSP00000480470.1:n.159-282dup
ENST00000619009.5:c.216-282dup	ENSP00000482293.1:n.216-282dup
ENST00000650978.1:c.58-282dup
ENST00000260947.8:c.216-282dup	ENSP00000260947.4:n.216-282dup
ENST00000421162.1:c.215+4334dup	ENSP00000392245.1:n.215+4334dup
ENST00000455743.5:c.215+4334dup	ENSP00000412186.1:n.215+4334dup
ENST00000471787.1:n.260-11218dup
ENST00000613192.1:c.73+16685dup	ENSP00000483275.1:n.73+16685dup
ENST00000613374.4:c.158+16685dup	ENSP00000484464.1:n.158+16685dup
ENST00000613706.4:c.215+4334dup	ENSP00000484976.1:n.215+4334dup
ENST00000617164.4:c.159-282dup	ENSP00000480470.1:n.159-282dup
ENST00000619009.4:c.216-282dup	ENSP00000482293.1:n.216-282dup
ENST00000620057.4:c.216-282dup	ENSP00000481988.1:n.216-282dup
NM_000465.3:c.216-282dup	NP_000456.2:n.216-282dup
NM_001282543.1:c.159-282dup	NP_001269472.1:n.159-282dup
NM_001282545.1:c.215+4334dup	NP_001269474.1:n.215+4334dup
NM_001282548.1:c.158+16685dup	NP_001269477.1:n.158+16685dup
NM_001282549.1:c.216-282dup	NP_001269478.1:n.216-282dup
NR_104212.1:n.357+4334dup
NR_104215.1:n.301-11218dup
NR_104216.1:n.358-282dup
XM_011511567.1:c.162-282dup	XP_011509869.1:n.162-282dup
XM_011511568.1:c.216-282dup	XP_011509870.1:n.216-282dup
XM_017004613.1:c.315-282dup	XP_016860102.1:n.315-282dup
XM_017004614.1:c.315-282dup	XP_016860103.1:n.315-282dup
XR_002959322.1:n.406-282dup
NM_000465.4:c.216-282dup MANE Select	NP_000456.2:n.216-282dup
NM_001282543.2:c.159-282dup	NP_001269472.1:n.159-282dup
NM_001282545.2:c.215+4334dup	NP_001269474.1:n.215+4334dup
NM_001282548.2:c.158+16685dup	NP_001269477.1:n.158+16685dup
NM_001282549.2:c.216-282dup	NP_001269478.1:n.216-282dup
NR_104212.2:n.329+4334dup
NR_104215.2:n.273-11218dup
NR_104216.2:n.330-282dup