Canonical Allele Identifier: CA2754202863

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728516A>G , CM000664.2:g.214728516A>G	GRCh38
NC_000002.11:g.215593240A>G , CM000664.1:g.215593240A>G	GRCh37
NC_000002.10:g.215301485A>G	NCBI36
NG_012047.2:g.86189T>C
NG_012047.3:g.86196T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.*160T>C MANE Select	ENSP00000260947.4:n.*160T>C
ENST00000260947.8:c.*160T>C	ENSP00000260947.4:n.*160T>C
ENST00000471590.5:n.829T>C
ENST00000613374.4:c.*160T>C	ENSP00000484464.1:n.*160T>C
ENST00000613706.4:c.*160T>C	ENSP00000484976.1:n.*160T>C
ENST00000617164.4:c.*160T>C	ENSP00000480470.1:n.*160T>C
ENST00000619009.4:c.*160T>C	ENSP00000482293.1:n.*160T>C
NM_000465.3:c.*160T>C	NP_000456.2:n.*160T>C
NM_001282543.1:c.*160T>C	NP_001269472.1:n.*160T>C
NM_001282545.1:c.*160T>C	NP_001269474.1:n.*160T>C
NM_001282548.1:c.*160T>C	NP_001269477.1:n.*160T>C
NM_001282549.1:c.*160T>C	NP_001269478.1:n.*160T>C
NR_104212.1:n.2487T>C
NR_104215.1:n.2430T>C
NR_104216.1:n.1686T>C
XM_011511567.1:c.*160T>C	XP_011509869.1:n.*160T>C
XM_017004613.1:c.*160T>C	XP_016860102.1:n.*160T>C
NM_000465.4:c.*160T>C MANE Select	NP_000456.2:n.*160T>C
NM_001282543.2:c.*160T>C	NP_001269472.1:n.*160T>C
NM_001282545.2:c.*160T>C	NP_001269474.1:n.*160T>C
NM_001282548.2:c.*160T>C	NP_001269477.1:n.*160T>C
NM_001282549.2:c.*160T>C	NP_001269478.1:n.*160T>C
NR_104212.2:n.2459T>C
NR_104215.2:n.2402T>C
NR_104216.2:n.1658T>C