Canonical Allele Identifier: CA2662969609

Gene: BARD1

Linked Data

• gnomAD v4: 2-214728515-GAATTCCTAATCTGGCATTAGACTTTTTTTTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728516_214728547del , CM000664.2:g.214728516_214728547del	GRCh38
NC_000002.11:g.215593240_215593271del , CM000664.1:g.215593240_215593271del	GRCh37
NC_000002.10:g.215301485_215301516del	NCBI36
NG_012047.2:g.86158_86189del
NG_012047.3:g.86165_86196del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*129_*160del MANE Select	ENSP00000260947.4:n.*129_*160del
ENST00000260947.8:c.*129_*160del	ENSP00000260947.4:n.*129_*160del
ENST00000471590.5:n.798_829del
ENST00000613374.4:c.*129_*160del	ENSP00000484464.1:n.*129_*160del
ENST00000613706.4:c.*129_*160del	ENSP00000484976.1:n.*129_*160del
ENST00000617164.4:c.*129_*160del	ENSP00000480470.1:n.*129_*160del
ENST00000619009.4:c.*129_*160del	ENSP00000482293.1:n.*129_*160del
NM_000465.3:c.*129_*160del	NP_000456.2:n.*129_*160del
NM_001282543.1:c.*129_*160del	NP_001269472.1:n.*129_*160del
NM_001282545.1:c.*129_*160del	NP_001269474.1:n.*129_*160del
NM_001282548.1:c.*129_*160del	NP_001269477.1:n.*129_*160del
NM_001282549.1:c.*129_*160del	NP_001269478.1:n.*129_*160del
NR_104212.1:n.2456_2487del
NR_104215.1:n.2399_2430del
NR_104216.1:n.1655_1686del
XM_011511567.1:c.*129_*160del	XP_011509869.1:n.*129_*160del
XM_017004613.1:c.*129_*160del	XP_016860102.1:n.*129_*160del
NM_000465.4:c.*129_*160del MANE Select	NP_000456.2:n.*129_*160del
NM_001282543.2:c.*129_*160del	NP_001269472.1:n.*129_*160del
NM_001282545.2:c.*129_*160del	NP_001269474.1:n.*129_*160del
NM_001282548.2:c.*129_*160del	NP_001269477.1:n.*129_*160del
NM_001282549.2:c.*129_*160del	NP_001269478.1:n.*129_*160del
NR_104212.2:n.2428_2459del
NR_104215.2:n.2371_2402del
NR_104216.2:n.1627_1658del