Canonical Allele Identifier: CA1042189389

Gene: BARD1

Linked Data

• gnomAD v3: 2-214792457-T-TAAAAAAAAAAAAA
• gnomAD v4: 2-214792457-T-TAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792457_214792458insAAAAAAAAAAAAA , CM000664.2:g.214792457_214792458insAAAAAAAAAAAAA	GRCh38
NC_000002.11:g.215657181_215657182insAAAAAAAAAAAAA , CM000664.1:g.215657181_215657182insAAAAAAAAAAAAA	GRCh37
NC_000002.10:g.215365426_215365427insAAAAAAAAAAAAA	NCBI36
NG_012047.2:g.22247_22248insTTTTTTTTTTTTT
NG_012047.3:g.22254_22255insTTTTTTTTTTTTT

Transcript Alleles

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