Canonical Allele Identifier: CA2662969635

Gene: BARD1

Linked Data

• gnomAD v4: 2-214728528-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728528G>T , CM000664.2:g.214728528G>T	GRCh38
NC_000002.11:g.215593252G>T , CM000664.1:g.215593252G>T	GRCh37
NC_000002.10:g.215301497G>T	NCBI36
NG_012047.2:g.86177C>A
NG_012047.3:g.86184C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*148C>A MANE Select	ENSP00000260947.4:n.*148C>A
ENST00000260947.8:c.*148C>A	ENSP00000260947.4:n.*148C>A
ENST00000471590.5:n.817C>A
ENST00000613374.4:c.*148C>A	ENSP00000484464.1:n.*148C>A
ENST00000613706.4:c.*148C>A	ENSP00000484976.1:n.*148C>A
ENST00000617164.4:c.*148C>A	ENSP00000480470.1:n.*148C>A
ENST00000619009.4:c.*148C>A	ENSP00000482293.1:n.*148C>A
NM_000465.3:c.*148C>A	NP_000456.2:n.*148C>A
NM_001282543.1:c.*148C>A	NP_001269472.1:n.*148C>A
NM_001282545.1:c.*148C>A	NP_001269474.1:n.*148C>A
NM_001282548.1:c.*148C>A	NP_001269477.1:n.*148C>A
NM_001282549.1:c.*148C>A	NP_001269478.1:n.*148C>A
NR_104212.1:n.2475C>A
NR_104215.1:n.2418C>A
NR_104216.1:n.1674C>A
XM_011511567.1:c.*148C>A	XP_011509869.1:n.*148C>A
XM_017004613.1:c.*148C>A	XP_016860102.1:n.*148C>A
NM_000465.4:c.*148C>A MANE Select	NP_000456.2:n.*148C>A
NM_001282543.2:c.*148C>A	NP_001269472.1:n.*148C>A
NM_001282545.2:c.*148C>A	NP_001269474.1:n.*148C>A
NM_001282548.2:c.*148C>A	NP_001269477.1:n.*148C>A
NM_001282549.2:c.*148C>A	NP_001269478.1:n.*148C>A
NR_104212.2:n.2447C>A
NR_104215.2:n.2390C>A
NR_104216.2:n.1646C>A