Canonical Allele Identifier: CA2662971986

Gene: BARD1

Linked Data

• gnomAD v4: 2-214792172-A-ACAGATTTTAAAATCTGAAATACGTATTC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792177_214792204dup , CM000664.2:g.214792177_214792204dup	GRCh38
NC_000002.11:g.215656901_215656928dup , CM000664.1:g.215656901_215656928dup	GRCh37
NC_000002.10:g.215365146_215365173dup	NCBI36
NG_012047.2:g.22505_22532dup
NG_012047.3:g.22512_22539dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.364+97_364+124dup MANE Select	ENSP00000260947.4:n.364+97_364+124dup
ENST00000421162.2:c.215+4861_215+4888dup	ENSP00000392245.2:n.215+4861_215+4888dup
ENST00000613192.2:c.158+17212_158+17239dup	ENSP00000483275.2:n.158+17212_158+17239du...
ENST00000613374.5:c.158+17212_158+17239dup	ENSP00000484464.1:n.158+17212_158+17239du...
ENST00000613706.5:c.364+97_364+124dup	ENSP00000484976.2:n.364+97_364+124dup
ENST00000617164.5:c.307+97_307+124dup	ENSP00000480470.1:n.307+97_307+124dup
ENST00000619009.5:c.364+97_364+124dup	ENSP00000482293.1:n.364+97_364+124dup
ENST00000650978.1:c.206+97_206+124dup
ENST00000260947.8:c.364+97_364+124dup	ENSP00000260947.4:n.364+97_364+124dup
ENST00000421162.1:c.215+4861_215+4888dup	ENSP00000392245.1:n.215+4861_215+4888dup
ENST00000455743.5:c.215+4861_215+4888dup	ENSP00000412186.1:n.215+4861_215+4888dup
ENST00000471787.1:n.260-10691_260-10664dup
ENST00000613192.1:c.73+17212_73+17239dup	ENSP00000483275.1:n.73+17212_73+17239dup
ENST00000613374.4:c.158+17212_158+17239dup	ENSP00000484464.1:n.158+17212_158+17239du...
ENST00000613706.4:c.215+4861_215+4888dup	ENSP00000484976.1:n.215+4861_215+4888dup
ENST00000617164.4:c.307+97_307+124dup	ENSP00000480470.1:n.307+97_307+124dup
ENST00000619009.4:c.364+97_364+124dup	ENSP00000482293.1:n.364+97_364+124dup
ENST00000620057.4:c.364+97_364+124dup	ENSP00000481988.1:n.364+97_364+124dup
NM_000465.3:c.364+97_364+124dup	NP_000456.2:n.364+97_364+124dup
NM_001282543.1:c.307+97_307+124dup	NP_001269472.1:n.307+97_307+124dup
NM_001282545.1:c.215+4861_215+4888dup	NP_001269474.1:n.215+4861_215+4888dup
NM_001282548.1:c.158+17212_158+17239dup	NP_001269477.1:n.158+17212_158+17239dup
NM_001282549.1:c.364+97_364+124dup	NP_001269478.1:n.364+97_364+124dup
NR_104212.1:n.357+4861_357+4888dup
NR_104215.1:n.301-10691_301-10664dup
NR_104216.1:n.506+97_506+124dup
XM_011511567.1:c.310+97_310+124dup	XP_011509869.1:n.310+97_310+124dup
XM_011511568.1:c.364+97_364+124dup	XP_011509870.1:n.364+97_364+124dup
XM_017004613.1:c.463+97_463+124dup	XP_016860102.1:n.463+97_463+124dup
XM_017004614.1:c.463+97_463+124dup	XP_016860103.1:n.463+97_463+124dup
XR_002959322.1:n.554+97_554+124dup
NM_000465.4:c.364+97_364+124dup MANE Select	NP_000456.2:n.364+97_364+124dup
NM_001282543.2:c.307+97_307+124dup	NP_001269472.1:n.307+97_307+124dup
NM_001282545.2:c.215+4861_215+4888dup	NP_001269474.1:n.215+4861_215+4888dup
NM_001282548.2:c.158+17212_158+17239dup	NP_001269477.1:n.158+17212_158+17239dup
NM_001282549.2:c.364+97_364+124dup	NP_001269478.1:n.364+97_364+124dup
NR_104212.2:n.329+4861_329+4888dup
NR_104215.2:n.273-10691_273-10664dup
NR_104216.2:n.478+97_478+124dup