Canonical Allele Identifier: CA539837399

Gene: BARD1

Linked Data

• ClinVar Variation Id: 801888
• ClinVar RCV Id: RCV000987022
• dbSNP Id: rs1491038786
• gnomAD v2: 2-215657180-ATT-A
• gnomAD v3: 2-214792456-ATT-A
• gnomAD v4: 2-214792456-ATT-A
• MyVariant Identifiers: chr2:g.215657181_215657182del (hg19) ; chr2:g.214792457_214792458del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792457_214792458del , CM000664.2:g.214792457_214792458del	GRCh38
NC_000002.11:g.215657181_215657182del , CM000664.1:g.215657181_215657182del	GRCh37
NC_000002.10:g.215365426_215365427del	NCBI36
NG_012047.2:g.22247_22248del
NG_012047.3:g.22254_22255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.216-13_216-12del MANE Select	ENSP00000260947.4:n.216-13_216-12del
ENST00000421162.2:c.215+4603_215+4604del	ENSP00000392245.2:n.215+4603_215+4604del
ENST00000613192.2:c.158+16954_158+16955del	ENSP00000483275.2:n.158+16954_158+16955del
ENST00000613374.5:c.158+16954_158+16955del	ENSP00000484464.1:n.158+16954_158+16955del
ENST00000613706.5:c.216-13_216-12del	ENSP00000484976.2:n.216-13_216-12del
ENST00000617164.5:c.159-13_159-12del	ENSP00000480470.1:n.159-13_159-12del
ENST00000619009.5:c.216-13_216-12del	ENSP00000482293.1:n.216-13_216-12del
ENST00000650978.1:c.58-13_58-12del
ENST00000260947.8:c.216-13_216-12del	ENSP00000260947.4:n.216-13_216-12del
ENST00000421162.1:c.215+4603_215+4604del	ENSP00000392245.1:n.215+4603_215+4604del
ENST00000455743.5:c.215+4603_215+4604del	ENSP00000412186.1:n.215+4603_215+4604del
ENST00000471787.1:n.260-10949_260-10948del
ENST00000613192.1:c.73+16954_73+16955del	ENSP00000483275.1:n.73+16954_73+16955del
ENST00000613374.4:c.158+16954_158+16955del	ENSP00000484464.1:n.158+16954_158+16955del
ENST00000613706.4:c.215+4603_215+4604del	ENSP00000484976.1:n.215+4603_215+4604del
ENST00000617164.4:c.159-13_159-12del	ENSP00000480470.1:n.159-13_159-12del
ENST00000619009.4:c.216-13_216-12del	ENSP00000482293.1:n.216-13_216-12del
ENST00000620057.4:c.216-13_216-12del	ENSP00000481988.1:n.216-13_216-12del
NM_000465.3:c.216-13_216-12del	NP_000456.2:n.216-13_216-12del
NM_001282543.1:c.159-13_159-12del	NP_001269472.1:n.159-13_159-12del
NM_001282545.1:c.215+4603_215+4604del	NP_001269474.1:n.215+4603_215+4604del
NM_001282548.1:c.158+16954_158+16955del	NP_001269477.1:n.158+16954_158+16955del
NM_001282549.1:c.216-13_216-12del	NP_001269478.1:n.216-13_216-12del
NR_104212.1:n.357+4603_357+4604del
NR_104215.1:n.301-10949_301-10948del
NR_104216.1:n.358-13_358-12del
XM_011511567.1:c.162-13_162-12del	XP_011509869.1:n.162-13_162-12del
XM_011511568.1:c.216-13_216-12del	XP_011509870.1:n.216-13_216-12del
XM_017004613.1:c.315-13_315-12del	XP_016860102.1:n.315-13_315-12del
XM_017004614.1:c.315-13_315-12del	XP_016860103.1:n.315-13_315-12del
XR_002959322.1:n.406-13_406-12del
NM_000465.4:c.216-13_216-12del MANE Select	NP_000456.2:n.216-13_216-12del
NM_001282543.2:c.159-13_159-12del	NP_001269472.1:n.159-13_159-12del
NM_001282545.2:c.215+4603_215+4604del	NP_001269474.1:n.215+4603_215+4604del
NM_001282548.2:c.158+16954_158+16955del	NP_001269477.1:n.158+16954_158+16955del
NM_001282549.2:c.216-13_216-12del	NP_001269478.1:n.216-13_216-12del
NR_104212.2:n.329+4603_329+4604del
NR_104215.2:n.273-10949_273-10948del
NR_104216.2:n.330-13_330-12del