Canonical Allele Identifier: CA1042189393

Gene: BARD1

Linked Data

• dbSNP Id: rs1695572398
• gnomAD v3: 2-214792457-TTA-T
• gnomAD v4: 2-214792457-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792458_214792459del , CM000664.2:g.214792458_214792459del	GRCh38
NC_000002.11:g.215657182_215657183del , CM000664.1:g.215657182_215657183del	GRCh37
NC_000002.10:g.215365427_215365428del	NCBI36
NG_012047.2:g.22246_22247del
NG_012047.3:g.22253_22254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.216-14_216-13del MANE Select	ENSP00000260947.4:n.216-14_216-13del
ENST00000421162.2:c.215+4602_215+4603del	ENSP00000392245.2:n.215+4602_215+4603del
ENST00000613192.2:c.158+16953_158+16954del	ENSP00000483275.2:n.158+16953_158+16954del
ENST00000613374.5:c.158+16953_158+16954del	ENSP00000484464.1:n.158+16953_158+16954del
ENST00000613706.5:c.216-14_216-13del	ENSP00000484976.2:n.216-14_216-13del
ENST00000617164.5:c.159-14_159-13del	ENSP00000480470.1:n.159-14_159-13del
ENST00000619009.5:c.216-14_216-13del	ENSP00000482293.1:n.216-14_216-13del
ENST00000650978.1:c.58-14_58-13del
ENST00000260947.8:c.216-14_216-13del	ENSP00000260947.4:n.216-14_216-13del
ENST00000421162.1:c.215+4602_215+4603del	ENSP00000392245.1:n.215+4602_215+4603del
ENST00000455743.5:c.215+4602_215+4603del	ENSP00000412186.1:n.215+4602_215+4603del
ENST00000471787.1:n.260-10950_260-10949del
ENST00000613192.1:c.73+16953_73+16954del	ENSP00000483275.1:n.73+16953_73+16954del
ENST00000613374.4:c.158+16953_158+16954del	ENSP00000484464.1:n.158+16953_158+16954del
ENST00000613706.4:c.215+4602_215+4603del	ENSP00000484976.1:n.215+4602_215+4603del
ENST00000617164.4:c.159-14_159-13del	ENSP00000480470.1:n.159-14_159-13del
ENST00000619009.4:c.216-14_216-13del	ENSP00000482293.1:n.216-14_216-13del
ENST00000620057.4:c.216-14_216-13del	ENSP00000481988.1:n.216-14_216-13del
NM_000465.3:c.216-14_216-13del	NP_000456.2:n.216-14_216-13del
NM_001282543.1:c.159-14_159-13del	NP_001269472.1:n.159-14_159-13del
NM_001282545.1:c.215+4602_215+4603del	NP_001269474.1:n.215+4602_215+4603del
NM_001282548.1:c.158+16953_158+16954del	NP_001269477.1:n.158+16953_158+16954del
NM_001282549.1:c.216-14_216-13del	NP_001269478.1:n.216-14_216-13del
NR_104212.1:n.357+4602_357+4603del
NR_104215.1:n.301-10950_301-10949del
NR_104216.1:n.358-14_358-13del
XM_011511567.1:c.162-14_162-13del	XP_011509869.1:n.162-14_162-13del
XM_011511568.1:c.216-14_216-13del	XP_011509870.1:n.216-14_216-13del
XM_017004613.1:c.315-14_315-13del	XP_016860102.1:n.315-14_315-13del
XM_017004614.1:c.315-14_315-13del	XP_016860103.1:n.315-14_315-13del
XR_002959322.1:n.406-14_406-13del
NM_000465.4:c.216-14_216-13del MANE Select	NP_000456.2:n.216-14_216-13del
NM_001282543.2:c.159-14_159-13del	NP_001269472.1:n.159-14_159-13del
NM_001282545.2:c.215+4602_215+4603del	NP_001269474.1:n.215+4602_215+4603del
NM_001282548.2:c.158+16953_158+16954del	NP_001269477.1:n.158+16953_158+16954del
NM_001282549.2:c.216-14_216-13del	NP_001269478.1:n.216-14_216-13del
NR_104212.2:n.329+4602_329+4603del
NR_104215.2:n.273-10950_273-10949del
NR_104216.2:n.330-14_330-13del