Canonical Allele Identifier: CA1042200851

Gene: BARD1

Linked Data

• dbSNP Id: rs1692180121
• gnomAD v3: 2-214728533-TAG-T
• gnomAD v4: 2-214728533-TAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728535_214728536del , CM000664.2:g.214728535_214728536del	GRCh38
NC_000002.11:g.215593259_215593260del , CM000664.1:g.215593259_215593260del	GRCh37
NC_000002.10:g.215301504_215301505del	NCBI36
NG_012047.2:g.86170_86171del
NG_012047.3:g.86177_86178del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*141_*142del MANE Select	ENSP00000260947.4:n.*141_*142del
ENST00000260947.8:c.*141_*142del	ENSP00000260947.4:n.*141_*142del
ENST00000471590.5:n.810_811del
ENST00000613374.4:c.*141_*142del	ENSP00000484464.1:n.*141_*142del
ENST00000613706.4:c.*141_*142del	ENSP00000484976.1:n.*141_*142del
ENST00000617164.4:c.*141_*142del	ENSP00000480470.1:n.*141_*142del
ENST00000619009.4:c.*141_*142del	ENSP00000482293.1:n.*141_*142del
NM_000465.3:c.*141_*142del	NP_000456.2:n.*141_*142del
NM_001282543.1:c.*141_*142del	NP_001269472.1:n.*141_*142del
NM_001282545.1:c.*141_*142del	NP_001269474.1:n.*141_*142del
NM_001282548.1:c.*141_*142del	NP_001269477.1:n.*141_*142del
NM_001282549.1:c.*141_*142del	NP_001269478.1:n.*141_*142del
NR_104212.1:n.2468_2469del
NR_104215.1:n.2411_2412del
NR_104216.1:n.1667_1668del
XM_011511567.1:c.*141_*142del	XP_011509869.1:n.*141_*142del
XM_017004613.1:c.*141_*142del	XP_016860102.1:n.*141_*142del
NM_000465.4:c.*141_*142del MANE Select	NP_000456.2:n.*141_*142del
NM_001282543.2:c.*141_*142del	NP_001269472.1:n.*141_*142del
NM_001282545.2:c.*141_*142del	NP_001269474.1:n.*141_*142del
NM_001282548.2:c.*141_*142del	NP_001269477.1:n.*141_*142del
NM_001282549.2:c.*141_*142del	NP_001269478.1:n.*141_*142del
NR_104212.2:n.2440_2441del
NR_104215.2:n.2383_2384del
NR_104216.2:n.1639_1640del