Canonical Allele Identifier: CA16610693

Gene: BARD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214769228C>A , CM000664.2:g.214769228C>A	GRCh38
NC_000002.11:g.215633952C>A , CM000664.1:g.215633952C>A	GRCh37
NC_000002.10:g.215342197C>A	NCBI36
NG_012047.2:g.45477G>T
NG_012047.3:g.45484G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1395+4G>T MANE Select	ENSP00000260947.4:n.1395+4G>T
ENST00000421162.2:c.216-16673G>T	ENSP00000392245.2:n.216-16673G>T
ENST00000613192.2:c.159-38720G>T	ENSP00000483275.2:n.159-38720G>T
ENST00000613374.5:c.159-16673G>T	ENSP00000484464.1:n.159-16673G>T
ENST00000613706.5:c.987+4G>T	ENSP00000484976.2:n.987+4G>T
ENST00000617164.5:c.1338+4G>T	ENSP00000480470.1:n.1338+4G>T
ENST00000619009.5:c.364+23069G>T	ENSP00000482293.1:n.364+23069G>T
ENST00000650978.1:c.2770+4G>T
ENST00000260947.8:c.1395+4G>T	ENSP00000260947.4:n.1395+4G>T
ENST00000421162.1:c.216-16673G>T	ENSP00000392245.1:n.216-16673G>T
ENST00000455743.5:c.*1015+4G>T	ENSP00000412186.1:n.*1015+4G>T
ENST00000613192.1:c.74-38720G>T	ENSP00000483275.1:n.74-38720G>T
ENST00000613374.4:c.159-16673G>T	ENSP00000484464.1:n.159-16673G>T
ENST00000613706.4:c.216-16673G>T	ENSP00000484976.1:n.216-16673G>T
ENST00000617164.4:c.1338+4G>T	ENSP00000480470.1:n.1338+4G>T
ENST00000619009.4:c.364+23069G>T	ENSP00000482293.1:n.364+23069G>T
ENST00000620057.4:c.*61+4G>T	ENSP00000481988.1:n.*61+4G>T
NM_000465.3:c.1395+4G>T	NP_000456.2:n.1395+4G>T
NM_001282543.1:c.1338+4G>T	NP_001269472.1:n.1338+4G>T
NM_001282545.1:c.216-16673G>T	NP_001269474.1:n.216-16673G>T
NM_001282548.1:c.159-16673G>T	NP_001269477.1:n.159-16673G>T
NM_001282549.1:c.364+23069G>T	NP_001269478.1:n.364+23069G>T
NR_104212.1:n.1388+4G>T
NR_104215.1:n.1331+4G>T
NR_104216.1:n.587+4G>T
XM_011511567.1:c.1341+4G>T	XP_011509869.1:n.1341+4G>T
XM_011511568.1:c.1395+4G>T	XP_011509870.1:n.1395+4G>T
XM_017004613.1:c.1494+4G>T	XP_016860102.1:n.1494+4G>T
XM_017004614.1:c.1494+4G>T	XP_016860103.1:n.1494+4G>T
XR_002959322.1:n.1585+4G>T
NM_000465.4:c.1395+4G>T MANE Select	NP_000456.2:n.1395+4G>T
NM_001282543.2:c.1338+4G>T	NP_001269472.1:n.1338+4G>T
NM_001282545.2:c.216-16673G>T	NP_001269474.1:n.216-16673G>T
NM_001282548.2:c.159-16673G>T	NP_001269477.1:n.159-16673G>T
NM_001282549.2:c.364+23069G>T	NP_001269478.1:n.364+23069G>T
NR_104212.2:n.1360+4G>T
NR_104215.2:n.1303+4G>T
NR_104216.2:n.559+4G>T