Canonical Allele Identifier: CA2662969703

Gene: BARD1

Linked Data

• gnomAD v4: 2-214728537-C-CTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728538_214728539insCTT , CM000664.2:g.214728538_214728539insCTT	GRCh38
NC_000002.11:g.215593262_215593263insCTT , CM000664.1:g.215593262_215593263insCTT	GRCh37
NC_000002.10:g.215301507_215301508insCTT	NCBI36
NG_012047.2:g.86167_86168insAGA
NG_012047.3:g.86174_86175insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.*138_*139insAGA MANE Select	ENSP00000260947.4:n.*138_*139insAGA
ENST00000260947.8:c.*138_*139insAGA	ENSP00000260947.4:n.*138_*139insAGA
ENST00000471590.5:n.807_808insAGA
ENST00000613374.4:c.*138_*139insAGA	ENSP00000484464.1:n.*138_*139insAGA
ENST00000613706.4:c.*138_*139insAGA	ENSP00000484976.1:n.*138_*139insAGA
ENST00000617164.4:c.*138_*139insAGA	ENSP00000480470.1:n.*138_*139insAGA
ENST00000619009.4:c.*138_*139insAGA	ENSP00000482293.1:n.*138_*139insAGA
NM_000465.3:c.*138_*139insAGA	NP_000456.2:n.*138_*139insAGA
NM_001282543.1:c.*138_*139insAGA	NP_001269472.1:n.*138_*139insAGA
NM_001282545.1:c.*138_*139insAGA	NP_001269474.1:n.*138_*139insAGA
NM_001282548.1:c.*138_*139insAGA	NP_001269477.1:n.*138_*139insAGA
NM_001282549.1:c.*138_*139insAGA	NP_001269478.1:n.*138_*139insAGA
NR_104212.1:n.2465_2466insAGA
NR_104215.1:n.2408_2409insAGA
NR_104216.1:n.1664_1665insAGA
XM_011511567.1:c.*138_*139insAGA	XP_011509869.1:n.*138_*139insAGA
XM_017004613.1:c.*138_*139insAGA	XP_016860102.1:n.*138_*139insAGA
NM_000465.4:c.*138_*139insAGA MANE Select	NP_000456.2:n.*138_*139insAGA
NM_001282543.2:c.*138_*139insAGA	NP_001269472.1:n.*138_*139insAGA
NM_001282545.2:c.*138_*139insAGA	NP_001269474.1:n.*138_*139insAGA
NM_001282548.2:c.*138_*139insAGA	NP_001269477.1:n.*138_*139insAGA
NM_001282549.2:c.*138_*139insAGA	NP_001269478.1:n.*138_*139insAGA
NR_104212.2:n.2437_2438insAGA
NR_104215.2:n.2380_2381insAGA
NR_104216.2:n.1636_1637insAGA