Canonical Allele Identifier: CA2607394548

Gene: BARD1

Linked Data

• gnomAD v3: 2-214728515-G-A
• gnomAD v4: 2-214728515-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728515G>A , CM000664.2:g.214728515G>A	GRCh38
NC_000002.11:g.215593239G>A , CM000664.1:g.215593239G>A	GRCh37
NC_000002.10:g.215301484G>A	NCBI36
NG_012047.2:g.86190C>T
NG_012047.3:g.86197C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*161C>T MANE Select	ENSP00000260947.4:n.*161C>T
ENST00000260947.8:c.*161C>T	ENSP00000260947.4:n.*161C>T
ENST00000471590.5:n.830C>T
ENST00000613374.4:c.*161C>T	ENSP00000484464.1:n.*161C>T
ENST00000613706.4:c.*161C>T	ENSP00000484976.1:n.*161C>T
ENST00000617164.4:c.*161C>T	ENSP00000480470.1:n.*161C>T
ENST00000619009.4:c.*161C>T	ENSP00000482293.1:n.*161C>T
NM_000465.3:c.*161C>T	NP_000456.2:n.*161C>T
NM_001282543.1:c.*161C>T	NP_001269472.1:n.*161C>T
NM_001282545.1:c.*161C>T	NP_001269474.1:n.*161C>T
NM_001282548.1:c.*161C>T	NP_001269477.1:n.*161C>T
NM_001282549.1:c.*161C>T	NP_001269478.1:n.*161C>T
NR_104212.1:n.2488C>T
NR_104215.1:n.2431C>T
NR_104216.1:n.1687C>T
XM_011511567.1:c.*161C>T	XP_011509869.1:n.*161C>T
XM_017004613.1:c.*161C>T	XP_016860102.1:n.*161C>T
NM_000465.4:c.*161C>T MANE Select	NP_000456.2:n.*161C>T
NM_001282543.2:c.*161C>T	NP_001269472.1:n.*161C>T
NM_001282545.2:c.*161C>T	NP_001269474.1:n.*161C>T
NM_001282548.2:c.*161C>T	NP_001269477.1:n.*161C>T
NM_001282549.2:c.*161C>T	NP_001269478.1:n.*161C>T
NR_104212.2:n.2460C>T
NR_104215.2:n.2403C>T
NR_104216.2:n.1659C>T