Canonical Allele Identifier: CA2662971977

Gene: BARD1

Linked Data

• gnomAD v4: 2-214792170-C-CTACAGATTTTAAAATCTGAAATACGTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792172_214792199dup , CM000664.2:g.214792172_214792199dup	GRCh38
NC_000002.11:g.215656896_215656923dup , CM000664.1:g.215656896_215656923dup	GRCh37
NC_000002.10:g.215365141_215365168dup	NCBI36
NG_012047.2:g.22507_22534dup
NG_012047.3:g.22514_22541dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.364+99_364+126dup MANE Select	ENSP00000260947.4:n.364+99_364+126dup
ENST00000421162.2:c.215+4863_215+4890dup	ENSP00000392245.2:n.215+4863_215+4890dup
ENST00000613192.2:c.158+17214_158+17241dup	ENSP00000483275.2:n.158+17214_158+17241du...
ENST00000613374.5:c.158+17214_158+17241dup	ENSP00000484464.1:n.158+17214_158+17241du...
ENST00000613706.5:c.364+99_364+126dup	ENSP00000484976.2:n.364+99_364+126dup
ENST00000617164.5:c.307+99_307+126dup	ENSP00000480470.1:n.307+99_307+126dup
ENST00000619009.5:c.364+99_364+126dup	ENSP00000482293.1:n.364+99_364+126dup
ENST00000650978.1:c.206+99_206+126dup
ENST00000260947.8:c.364+99_364+126dup	ENSP00000260947.4:n.364+99_364+126dup
ENST00000421162.1:c.215+4863_215+4890dup	ENSP00000392245.1:n.215+4863_215+4890dup
ENST00000455743.5:c.215+4863_215+4890dup	ENSP00000412186.1:n.215+4863_215+4890dup
ENST00000471787.1:n.260-10689_260-10662dup
ENST00000613192.1:c.73+17214_73+17241dup	ENSP00000483275.1:n.73+17214_73+17241dup
ENST00000613374.4:c.158+17214_158+17241dup	ENSP00000484464.1:n.158+17214_158+17241du...
ENST00000613706.4:c.215+4863_215+4890dup	ENSP00000484976.1:n.215+4863_215+4890dup
ENST00000617164.4:c.307+99_307+126dup	ENSP00000480470.1:n.307+99_307+126dup
ENST00000619009.4:c.364+99_364+126dup	ENSP00000482293.1:n.364+99_364+126dup
ENST00000620057.4:c.364+99_364+126dup	ENSP00000481988.1:n.364+99_364+126dup
NM_000465.3:c.364+99_364+126dup	NP_000456.2:n.364+99_364+126dup
NM_001282543.1:c.307+99_307+126dup	NP_001269472.1:n.307+99_307+126dup
NM_001282545.1:c.215+4863_215+4890dup	NP_001269474.1:n.215+4863_215+4890dup
NM_001282548.1:c.158+17214_158+17241dup	NP_001269477.1:n.158+17214_158+17241dup
NM_001282549.1:c.364+99_364+126dup	NP_001269478.1:n.364+99_364+126dup
NR_104212.1:n.357+4863_357+4890dup
NR_104215.1:n.301-10689_301-10662dup
NR_104216.1:n.506+99_506+126dup
XM_011511567.1:c.310+99_310+126dup	XP_011509869.1:n.310+99_310+126dup
XM_011511568.1:c.364+99_364+126dup	XP_011509870.1:n.364+99_364+126dup
XM_017004613.1:c.463+99_463+126dup	XP_016860102.1:n.463+99_463+126dup
XM_017004614.1:c.463+99_463+126dup	XP_016860103.1:n.463+99_463+126dup
XR_002959322.1:n.554+99_554+126dup
NM_000465.4:c.364+99_364+126dup MANE Select	NP_000456.2:n.364+99_364+126dup
NM_001282543.2:c.307+99_307+126dup	NP_001269472.1:n.307+99_307+126dup
NM_001282545.2:c.215+4863_215+4890dup	NP_001269474.1:n.215+4863_215+4890dup
NM_001282548.2:c.158+17214_158+17241dup	NP_001269477.1:n.158+17214_158+17241dup
NM_001282549.2:c.364+99_364+126dup	NP_001269478.1:n.364+99_364+126dup
NR_104212.2:n.329+4863_329+4890dup
NR_104215.2:n.273-10689_273-10662dup
NR_104216.2:n.478+99_478+126dup