Canonical Allele Identifier: CA2662971992

Gene: BARD1

Linked Data

• gnomAD v4: 2-214792174-AGATTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792175_214792180del , CM000664.2:g.214792175_214792180del	GRCh38
NC_000002.11:g.215656899_215656904del , CM000664.1:g.215656899_215656904del	GRCh37
NC_000002.10:g.215365144_215365149del	NCBI36
NG_012047.2:g.22525_22530del
NG_012047.3:g.22532_22537del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.364+117_364+122del MANE Select	ENSP00000260947.4:n.364+117_364+122del
ENST00000421162.2:c.215+4881_215+4886del	ENSP00000392245.2:n.215+4881_215+4886del
ENST00000613192.2:c.158+17232_158+17237del	ENSP00000483275.2:n.158+17232_158+17237de...
ENST00000613374.5:c.158+17232_158+17237del	ENSP00000484464.1:n.158+17232_158+17237de...
ENST00000613706.5:c.364+117_364+122del	ENSP00000484976.2:n.364+117_364+122del
ENST00000617164.5:c.307+117_307+122del	ENSP00000480470.1:n.307+117_307+122del
ENST00000619009.5:c.364+117_364+122del	ENSP00000482293.1:n.364+117_364+122del
ENST00000650978.1:c.206+117_206+122del
ENST00000260947.8:c.364+117_364+122del	ENSP00000260947.4:n.364+117_364+122del
ENST00000421162.1:c.215+4881_215+4886del	ENSP00000392245.1:n.215+4881_215+4886del
ENST00000455743.5:c.215+4881_215+4886del	ENSP00000412186.1:n.215+4881_215+4886del
ENST00000471787.1:n.260-10671_260-10666del
ENST00000613192.1:c.73+17232_73+17237del	ENSP00000483275.1:n.73+17232_73+17237del
ENST00000613374.4:c.158+17232_158+17237del	ENSP00000484464.1:n.158+17232_158+17237de...
ENST00000613706.4:c.215+4881_215+4886del	ENSP00000484976.1:n.215+4881_215+4886del
ENST00000617164.4:c.307+117_307+122del	ENSP00000480470.1:n.307+117_307+122del
ENST00000619009.4:c.364+117_364+122del	ENSP00000482293.1:n.364+117_364+122del
ENST00000620057.4:c.364+117_364+122del	ENSP00000481988.1:n.364+117_364+122del
NM_000465.3:c.364+117_364+122del	NP_000456.2:n.364+117_364+122del
NM_001282543.1:c.307+117_307+122del	NP_001269472.1:n.307+117_307+122del
NM_001282545.1:c.215+4881_215+4886del	NP_001269474.1:n.215+4881_215+4886del
NM_001282548.1:c.158+17232_158+17237del	NP_001269477.1:n.158+17232_158+17237del
NM_001282549.1:c.364+117_364+122del	NP_001269478.1:n.364+117_364+122del
NR_104212.1:n.357+4881_357+4886del
NR_104215.1:n.301-10671_301-10666del
NR_104216.1:n.506+117_506+122del
XM_011511567.1:c.310+117_310+122del	XP_011509869.1:n.310+117_310+122del
XM_011511568.1:c.364+117_364+122del	XP_011509870.1:n.364+117_364+122del
XM_017004613.1:c.463+117_463+122del	XP_016860102.1:n.463+117_463+122del
XM_017004614.1:c.463+117_463+122del	XP_016860103.1:n.463+117_463+122del
XR_002959322.1:n.554+117_554+122del
NM_000465.4:c.364+117_364+122del MANE Select	NP_000456.2:n.364+117_364+122del
NM_001282543.2:c.307+117_307+122del	NP_001269472.1:n.307+117_307+122del
NM_001282545.2:c.215+4881_215+4886del	NP_001269474.1:n.215+4881_215+4886del
NM_001282548.2:c.158+17232_158+17237del	NP_001269477.1:n.158+17232_158+17237del
NM_001282549.2:c.364+117_364+122del	NP_001269478.1:n.364+117_364+122del
NR_104212.2:n.329+4881_329+4886del
NR_104215.2:n.273-10671_273-10666del
NR_104216.2:n.478+117_478+122del