Canonical Allele Identifier: CA2662969468

Gene: BARD1

Linked Data

• gnomAD v4: 2-214728485-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728485A>T , CM000664.2:g.214728485A>T	GRCh38
NC_000002.11:g.215593209A>T , CM000664.1:g.215593209A>T	GRCh37
NC_000002.10:g.215301454A>T	NCBI36
NG_012047.2:g.86220T>A
NG_012047.3:g.86227T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*191T>A MANE Select	ENSP00000260947.4:n.*191T>A
ENST00000260947.8:c.*191T>A	ENSP00000260947.4:n.*191T>A
ENST00000471590.5:n.860T>A
ENST00000613374.4:c.*191T>A	ENSP00000484464.1:n.*191T>A
ENST00000613706.4:c.*191T>A	ENSP00000484976.1:n.*191T>A
ENST00000617164.4:c.*191T>A	ENSP00000480470.1:n.*191T>A
ENST00000619009.4:c.*191T>A	ENSP00000482293.1:n.*191T>A
NM_000465.3:c.*191T>A	NP_000456.2:n.*191T>A
NM_001282543.1:c.*191T>A	NP_001269472.1:n.*191T>A
NM_001282545.1:c.*191T>A	NP_001269474.1:n.*191T>A
NM_001282548.1:c.*191T>A	NP_001269477.1:n.*191T>A
NM_001282549.1:c.*191T>A	NP_001269478.1:n.*191T>A
NR_104212.1:n.2518T>A
NR_104215.1:n.2461T>A
NR_104216.1:n.1717T>A
XM_011511567.1:c.*191T>A	XP_011509869.1:n.*191T>A
XM_017004613.1:c.*191T>A	XP_016860102.1:n.*191T>A
NM_000465.4:c.*191T>A MANE Select	NP_000456.2:n.*191T>A
NM_001282543.2:c.*191T>A	NP_001269472.1:n.*191T>A
NM_001282545.2:c.*191T>A	NP_001269474.1:n.*191T>A
NM_001282548.2:c.*191T>A	NP_001269477.1:n.*191T>A
NM_001282549.2:c.*191T>A	NP_001269478.1:n.*191T>A
NR_104212.2:n.2490T>A
NR_104215.2:n.2433T>A
NR_104216.2:n.1689T>A