Canonical Allele Identifier: CA2573135159

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1679026
• ClinVar RCV Id: RCV002226339
• dbSNP Id: rs2106112637
• gnomAD v4: 2-214781482-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781485_214781486del , CM000664.2:g.214781485_214781486del	GRCh38
NC_000002.11:g.215646209_215646210del , CM000664.1:g.215646209_215646210del	GRCh37
NC_000002.10:g.215354454_215354455del	NCBI36
NG_012047.2:g.33221_33222del
NG_012047.3:g.33228_33229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.390_391del MANE Select	ENSP00000260947.4:p.Ser131PhefsTer3
ENST00000421162.2:c.215+15577_215+15578del	ENSP00000392245.2:n.215+15577_215+15578del
ENST00000613192.2:c.158+27928_158+27929del	ENSP00000483275.2:n.158+27928_158+27929del
ENST00000613374.5:c.158+27928_158+27929del	ENSP00000484464.1:n.158+27928_158+27929del
ENST00000613706.5:c.390_391del	ENSP00000484976.2:p.Ser131PhefsTer3
ENST00000617164.5:c.333_334del	ENSP00000480470.1:p.Ser112PhefsTer3
ENST00000619009.5:c.364+10813_364+10814del	ENSP00000482293.1:n.364+10813_364+10814del
ENST00000650978.1:c.232_233del
ENST00000260947.8:c.390_391del	ENSP00000260947.4:p.Ser131PhefsTer3
ENST00000421162.1:c.215+15577_215+15578del	ENSP00000392245.1:n.215+15577_215+15578del
ENST00000455743.5:c.*10_*11del	ENSP00000412186.1:n.*10_*11del
ENST00000471787.1:n.285_286del
ENST00000613192.1:c.73+27928_73+27929del	ENSP00000483275.1:n.73+27928_73+27929del
ENST00000613374.4:c.158+27928_158+27929del	ENSP00000484464.1:n.158+27928_158+27929del
ENST00000613706.4:c.215+15577_215+15578del	ENSP00000484976.1:n.215+15577_215+15578del
ENST00000617164.4:c.333_334del	ENSP00000480470.1:p.Ser112PhefsTer3
ENST00000619009.4:c.364+10813_364+10814del	ENSP00000482293.1:n.364+10813_364+10814del
ENST00000620057.4:c.364+10813_364+10814del	ENSP00000481988.1:n.364+10813_364+10814del
NM_000465.3:c.390_391del	NP_000456.2:p.Ser131PhefsTer3
NM_001282543.1:c.333_334del	NP_001269472.1:p.Ser112PhefsTer3
NM_001282545.1:c.215+15577_215+15578del	NP_001269474.1:n.215+15577_215+15578del
NM_001282548.1:c.158+27928_158+27929del	NP_001269477.1:n.158+27928_158+27929del
NM_001282549.1:c.364+10813_364+10814del	NP_001269478.1:n.364+10813_364+10814del
NR_104212.1:n.383_384del
NR_104215.1:n.326_327del
NR_104216.1:n.506+10813_506+10814del
XM_011511567.1:c.336_337del	XP_011509869.1:p.Ser113PhefsTer3
XM_011511568.1:c.390_391del	XP_011509870.1:p.Ser131PhefsTer3
XM_017004613.1:c.489_490del	XP_016860102.1:p.Ser164PhefsTer3
XM_017004614.1:c.489_490del	XP_016860103.1:p.Ser164PhefsTer3
XR_002959322.1:n.580_581del
NM_000465.4:c.390_391del MANE Select	NP_000456.2:p.Ser131PhefsTer3
NM_001282543.2:c.333_334del	NP_001269472.1:p.Ser112PhefsTer3
NM_001282545.2:c.215+15577_215+15578del	NP_001269474.1:n.215+15577_215+15578del
NM_001282548.2:c.158+27928_158+27929del	NP_001269477.1:n.158+27928_158+27929del
NM_001282549.2:c.364+10813_364+10814del	NP_001269478.1:n.364+10813_364+10814del
NR_104212.2:n.355_356del
NR_104215.2:n.298_299del
NR_104216.2:n.478+10813_478+10814del