Canonical Allele Identifier: CA2662969657

Gene: BARD1

Linked Data

• gnomAD v4: 2-214728536-A-AATT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728536_214728537insATT , CM000664.2:g.214728536_214728537insATT	GRCh38
NC_000002.11:g.215593260_215593261insATT , CM000664.1:g.215593260_215593261insATT	GRCh37
NC_000002.10:g.215301505_215301506insATT	NCBI36
NG_012047.2:g.86168_86169insAAT
NG_012047.3:g.86175_86176insAAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*139_*140insAAT MANE Select	ENSP00000260947.4:n.*139_*140insAAT
ENST00000260947.8:c.*139_*140insAAT	ENSP00000260947.4:n.*139_*140insAAT
ENST00000471590.5:n.808_809insAAT
ENST00000613374.4:c.*139_*140insAAT	ENSP00000484464.1:n.*139_*140insAAT
ENST00000613706.4:c.*139_*140insAAT	ENSP00000484976.1:n.*139_*140insAAT
ENST00000617164.4:c.*139_*140insAAT	ENSP00000480470.1:n.*139_*140insAAT
ENST00000619009.4:c.*139_*140insAAT	ENSP00000482293.1:n.*139_*140insAAT
NM_000465.3:c.*139_*140insAAT	NP_000456.2:n.*139_*140insAAT
NM_001282543.1:c.*139_*140insAAT	NP_001269472.1:n.*139_*140insAAT
NM_001282545.1:c.*139_*140insAAT	NP_001269474.1:n.*139_*140insAAT
NM_001282548.1:c.*139_*140insAAT	NP_001269477.1:n.*139_*140insAAT
NM_001282549.1:c.*139_*140insAAT	NP_001269478.1:n.*139_*140insAAT
NR_104212.1:n.2466_2467insAAT
NR_104215.1:n.2409_2410insAAT
NR_104216.1:n.1665_1666insAAT
XM_011511567.1:c.*139_*140insAAT	XP_011509869.1:n.*139_*140insAAT
XM_017004613.1:c.*139_*140insAAT	XP_016860102.1:n.*139_*140insAAT
NM_000465.4:c.*139_*140insAAT MANE Select	NP_000456.2:n.*139_*140insAAT
NM_001282543.2:c.*139_*140insAAT	NP_001269472.1:n.*139_*140insAAT
NM_001282545.2:c.*139_*140insAAT	NP_001269474.1:n.*139_*140insAAT
NM_001282548.2:c.*139_*140insAAT	NP_001269477.1:n.*139_*140insAAT
NM_001282549.2:c.*139_*140insAAT	NP_001269478.1:n.*139_*140insAAT
NR_104212.2:n.2438_2439insAAT
NR_104215.2:n.2381_2382insAAT
NR_104216.2:n.1637_1638insAAT