Canonical Allele Identifier: CA2662969724

Gene: BARD1

Linked Data

• gnomAD v4: 2-214728540-T-TTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728542_214728543insCTT , CM000664.2:g.214728542_214728543insCTT	GRCh38
NC_000002.11:g.215593266_215593267insCTT , CM000664.1:g.215593266_215593267insCTT	GRCh37
NC_000002.10:g.215301511_215301512insCTT	NCBI36
NG_012047.2:g.86164_86165insGAA
NG_012047.3:g.86171_86172insGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*135_*136insGAA MANE Select	ENSP00000260947.4:n.*135_*136insGAA
ENST00000260947.8:c.*135_*136insGAA	ENSP00000260947.4:n.*135_*136insGAA
ENST00000432456.5:c.612_613insGAA
ENST00000471590.5:n.804_805insGAA
ENST00000613374.4:c.*135_*136insGAA	ENSP00000484464.1:n.*135_*136insGAA
ENST00000613706.4:c.*135_*136insGAA	ENSP00000484976.1:n.*135_*136insGAA
ENST00000617164.4:c.*135_*136insGAA	ENSP00000480470.1:n.*135_*136insGAA
ENST00000619009.4:c.*135_*136insGAA	ENSP00000482293.1:n.*135_*136insGAA
NM_000465.3:c.*135_*136insGAA	NP_000456.2:n.*135_*136insGAA
NM_001282543.1:c.*135_*136insGAA	NP_001269472.1:n.*135_*136insGAA
NM_001282545.1:c.*135_*136insGAA	NP_001269474.1:n.*135_*136insGAA
NM_001282548.1:c.*135_*136insGAA	NP_001269477.1:n.*135_*136insGAA
NM_001282549.1:c.*135_*136insGAA	NP_001269478.1:n.*135_*136insGAA
NR_104212.1:n.2462_2463insGAA
NR_104215.1:n.2405_2406insGAA
NR_104216.1:n.1661_1662insGAA
XM_011511567.1:c.*135_*136insGAA	XP_011509869.1:n.*135_*136insGAA
XM_017004613.1:c.*135_*136insGAA	XP_016860102.1:n.*135_*136insGAA
XR_002959322.1:n.2835_2836insGAA
NM_000465.4:c.*135_*136insGAA MANE Select	NP_000456.2:n.*135_*136insGAA
NM_001282543.2:c.*135_*136insGAA	NP_001269472.1:n.*135_*136insGAA
NM_001282545.2:c.*135_*136insGAA	NP_001269474.1:n.*135_*136insGAA
NM_001282548.2:c.*135_*136insGAA	NP_001269477.1:n.*135_*136insGAA
NM_001282549.2:c.*135_*136insGAA	NP_001269478.1:n.*135_*136insGAA
NR_104212.2:n.2434_2435insGAA
NR_104215.2:n.2377_2378insGAA
NR_104216.2:n.1633_1634insGAA