Canonical Allele Identifier: CA2662969646

Gene: BARD1

Linked Data

• gnomAD v4: 2-214728532-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728532T>G , CM000664.2:g.214728532T>G	GRCh38
NC_000002.11:g.215593256T>G , CM000664.1:g.215593256T>G	GRCh37
NC_000002.10:g.215301501T>G	NCBI36
NG_012047.2:g.86173A>C
NG_012047.3:g.86180A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*144A>C MANE Select	ENSP00000260947.4:n.*144A>C
ENST00000260947.8:c.*144A>C	ENSP00000260947.4:n.*144A>C
ENST00000471590.5:n.813A>C
ENST00000613374.4:c.*144A>C	ENSP00000484464.1:n.*144A>C
ENST00000613706.4:c.*144A>C	ENSP00000484976.1:n.*144A>C
ENST00000617164.4:c.*144A>C	ENSP00000480470.1:n.*144A>C
ENST00000619009.4:c.*144A>C	ENSP00000482293.1:n.*144A>C
NM_000465.3:c.*144A>C	NP_000456.2:n.*144A>C
NM_001282543.1:c.*144A>C	NP_001269472.1:n.*144A>C
NM_001282545.1:c.*144A>C	NP_001269474.1:n.*144A>C
NM_001282548.1:c.*144A>C	NP_001269477.1:n.*144A>C
NM_001282549.1:c.*144A>C	NP_001269478.1:n.*144A>C
NR_104212.1:n.2471A>C
NR_104215.1:n.2414A>C
NR_104216.1:n.1670A>C
XM_011511567.1:c.*144A>C	XP_011509869.1:n.*144A>C
XM_017004613.1:c.*144A>C	XP_016860102.1:n.*144A>C
NM_000465.4:c.*144A>C MANE Select	NP_000456.2:n.*144A>C
NM_001282543.2:c.*144A>C	NP_001269472.1:n.*144A>C
NM_001282545.2:c.*144A>C	NP_001269474.1:n.*144A>C
NM_001282548.2:c.*144A>C	NP_001269477.1:n.*144A>C
NM_001282549.2:c.*144A>C	NP_001269478.1:n.*144A>C
NR_104212.2:n.2443A>C
NR_104215.2:n.2386A>C
NR_104216.2:n.1642A>C