Canonical Allele Identifier: CA2662973069

Gene: BARD1

Linked Data

• gnomAD v4: 2-214809699-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214809699C>A , CM000664.2:g.214809699C>A	GRCh38
NC_000002.11:g.215674423C>A , CM000664.1:g.215674423C>A	GRCh37
NC_000002.10:g.215382668C>A	NCBI36
NG_012047.2:g.5006G>T
NG_012047.3:g.5013G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.8:c.-130G>T	ENSP00000260947.4:n.-130G>T
ENST00000613374.4:c.-130G>T	ENSP00000484464.1:n.-130G>T
ENST00000613706.4:c.-130G>T	ENSP00000484976.1:n.-130G>T
ENST00000617164.4:c.-130G>T	ENSP00000480470.1:n.-130G>T
ENST00000619009.4:c.-130G>T	ENSP00000482293.1:n.-130G>T
NM_000465.3:c.-130G>T	NP_000456.2:n.-130G>T
NM_001282543.1:c.-130G>T	NP_001269472.1:n.-130G>T
NM_001282545.1:c.-130G>T	NP_001269474.1:n.-130G>T
NM_001282548.1:c.-130G>T	NP_001269477.1:n.-130G>T
NM_001282549.1:c.-130G>T	NP_001269478.1:n.-130G>T
NR_104212.1:n.13G>T
NR_104215.1:n.13G>T
NR_104216.1:n.13G>T
XM_011511568.1:c.-130G>T	XP_011509870.1:n.-130G>T