Canonical Allele Identifier: CA2662969919

Gene: BARD1

Linked Data

• gnomAD v4: 2-214728658-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728658G>T , CM000664.2:g.214728658G>T	GRCh38
NC_000002.11:g.215593382G>T , CM000664.1:g.215593382G>T	GRCh37
NC_000002.10:g.215301627G>T	NCBI36
NG_012047.2:g.86047C>A
NG_012047.3:g.86054C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*18C>A MANE Select	ENSP00000260947.4:n.*18C>A
ENST00000613374.5:c.*18C>A	ENSP00000484464.1:n.*18C>A
ENST00000613706.5:c.*18C>A	ENSP00000484976.2:n.*18C>A
ENST00000617164.5:c.*18C>A	ENSP00000480470.1:n.*18C>A
ENST00000619009.5:c.*18C>A	ENSP00000482293.1:n.*18C>A
ENST00000650978.1:c.3727C>A
ENST00000260947.8:c.*18C>A	ENSP00000260947.4:n.*18C>A
ENST00000432456.5:c.495C>A
ENST00000471590.5:n.687C>A
ENST00000613374.4:c.*18C>A	ENSP00000484464.1:n.*18C>A
ENST00000613706.4:c.*18C>A	ENSP00000484976.1:n.*18C>A
ENST00000617164.4:c.*18C>A	ENSP00000480470.1:n.*18C>A
ENST00000619009.4:c.*18C>A	ENSP00000482293.1:n.*18C>A
NM_000465.3:c.*18C>A	NP_000456.2:n.*18C>A
NM_001282543.1:c.*18C>A	NP_001269472.1:n.*18C>A
NM_001282545.1:c.*18C>A	NP_001269474.1:n.*18C>A
NM_001282548.1:c.*18C>A	NP_001269477.1:n.*18C>A
NM_001282549.1:c.*18C>A	NP_001269478.1:n.*18C>A
NR_104212.1:n.2345C>A
NR_104215.1:n.2288C>A
NR_104216.1:n.1544C>A
XM_011511567.1:c.*18C>A	XP_011509869.1:n.*18C>A
XM_017004613.1:c.*18C>A	XP_016860102.1:n.*18C>A
XR_002959322.1:n.2718C>A
NM_000465.4:c.*18C>A MANE Select	NP_000456.2:n.*18C>A
NM_001282543.2:c.*18C>A	NP_001269472.1:n.*18C>A
NM_001282545.2:c.*18C>A	NP_001269474.1:n.*18C>A
NM_001282548.2:c.*18C>A	NP_001269477.1:n.*18C>A
NM_001282549.2:c.*18C>A	NP_001269478.1:n.*18C>A
NR_104212.2:n.2317C>A
NR_104215.2:n.2260C>A
NR_104216.2:n.1516C>A