Canonical Allele Identifier: CA2662971951

Gene: BARD1

Linked Data

• gnomAD v4: 2-214792149-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792149_214792150insA , CM000664.2:g.214792149_214792150insA	GRCh38
NC_000002.11:g.215656873_215656874insA , CM000664.1:g.215656873_215656874insA	GRCh37
NC_000002.10:g.215365118_215365119insA	NCBI36
NG_012047.2:g.22555_22556insT
NG_012047.3:g.22562_22563insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.364+147_364+148insT MANE Select	ENSP00000260947.4:n.364+147_364+148insT
ENST00000421162.2:c.215+4911_215+4912insT	ENSP00000392245.2:n.215+4911_215+4912insT...
ENST00000613192.2:c.158+17262_158+17263insT	ENSP00000483275.2:n.158+17262_158+17263in...
ENST00000613374.5:c.158+17262_158+17263insT	ENSP00000484464.1:n.158+17262_158+17263in...
ENST00000613706.5:c.364+147_364+148insT	ENSP00000484976.2:n.364+147_364+148insT
ENST00000617164.5:c.307+147_307+148insT	ENSP00000480470.1:n.307+147_307+148insT
ENST00000619009.5:c.364+147_364+148insT	ENSP00000482293.1:n.364+147_364+148insT
ENST00000650978.1:c.206+147_206+148insT
ENST00000260947.8:c.364+147_364+148insT	ENSP00000260947.4:n.364+147_364+148insT
ENST00000421162.1:c.215+4911_215+4912insT	ENSP00000392245.1:n.215+4911_215+4912insT...
ENST00000455743.5:c.215+4911_215+4912insT	ENSP00000412186.1:n.215+4911_215+4912insT...
ENST00000471787.1:n.260-10641_260-10640insT
ENST00000613192.1:c.73+17262_73+17263insT	ENSP00000483275.1:n.73+17262_73+17263insT...
ENST00000613374.4:c.158+17262_158+17263insT	ENSP00000484464.1:n.158+17262_158+17263in...
ENST00000613706.4:c.215+4911_215+4912insT	ENSP00000484976.1:n.215+4911_215+4912insT...
ENST00000617164.4:c.307+147_307+148insT	ENSP00000480470.1:n.307+147_307+148insT
ENST00000619009.4:c.364+147_364+148insT	ENSP00000482293.1:n.364+147_364+148insT
ENST00000620057.4:c.364+147_364+148insT	ENSP00000481988.1:n.364+147_364+148insT
NM_000465.3:c.364+147_364+148insT	NP_000456.2:n.364+147_364+148insT
NM_001282543.1:c.307+147_307+148insT	NP_001269472.1:n.307+147_307+148insT
NM_001282545.1:c.215+4911_215+4912insT	NP_001269474.1:n.215+4911_215+4912insT
NM_001282548.1:c.158+17262_158+17263insT	NP_001269477.1:n.158+17262_158+17263insT
NM_001282549.1:c.364+147_364+148insT	NP_001269478.1:n.364+147_364+148insT
NR_104212.1:n.357+4911_357+4912insT
NR_104215.1:n.301-10641_301-10640insT
NR_104216.1:n.506+147_506+148insT
XM_011511567.1:c.310+147_310+148insT	XP_011509869.1:n.310+147_310+148insT
XM_011511568.1:c.364+147_364+148insT	XP_011509870.1:n.364+147_364+148insT
XM_017004613.1:c.463+147_463+148insT	XP_016860102.1:n.463+147_463+148insT
XM_017004614.1:c.463+147_463+148insT	XP_016860103.1:n.463+147_463+148insT
XR_002959322.1:n.554+147_554+148insT
NM_000465.4:c.364+147_364+148insT MANE Select	NP_000456.2:n.364+147_364+148insT
NM_001282543.2:c.307+147_307+148insT	NP_001269472.1:n.307+147_307+148insT
NM_001282545.2:c.215+4911_215+4912insT	NP_001269474.1:n.215+4911_215+4912insT
NM_001282548.2:c.158+17262_158+17263insT	NP_001269477.1:n.158+17262_158+17263insT
NM_001282549.2:c.364+147_364+148insT	NP_001269478.1:n.364+147_364+148insT
NR_104212.2:n.329+4911_329+4912insT
NR_104215.2:n.273-10641_273-10640insT
NR_104216.2:n.478+147_478+148insT