Canonical Allele Identifier: CA1139655694

Gene: BARD1

Linked Data

• ClinVar Variation Id: 944394
• ClinVar RCV Id: RCV001214785
• dbSNP Id: rs1694939675

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780596_214780597del , CM000664.2:g.214780596_214780597del	GRCh38
NC_000002.11:g.215645320_215645321del , CM000664.1:g.215645320_215645321del	GRCh37
NC_000002.10:g.215353565_215353566del	NCBI36
NG_012047.2:g.34109_34110del
NG_012047.3:g.34116_34117del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1278_1279del MANE Select	ENSP00000260947.4:p.His426GlnfsTer12
ENST00000421162.2:c.215+16465_215+16466del	ENSP00000392245.2:n.215+16465_215+16466del
ENST00000613192.2:c.158+28816_158+28817del	ENSP00000483275.2:n.158+28816_158+28817del
ENST00000613374.5:c.159-28041_159-28040del	ENSP00000484464.1:n.159-28041_159-28040del
ENST00000613706.5:c.906+372_906+373del	ENSP00000484976.2:n.906+372_906+373del
ENST00000617164.5:c.1221_1222del	ENSP00000480470.1:p.His407GlnfsTer12
ENST00000619009.5:c.364+11701_364+11702del	ENSP00000482293.1:n.364+11701_364+11702del
ENST00000650978.1:c.1120_1121del
ENST00000260947.8:c.1278_1279del	ENSP00000260947.4:p.His426GlnfsTer12
ENST00000421162.1:c.215+16465_215+16466del	ENSP00000392245.1:n.215+16465_215+16466del
ENST00000455743.5:c.*898_*899del	ENSP00000412186.1:n.*898_*899del
ENST00000613192.1:c.73+28816_73+28817del	ENSP00000483275.1:n.73+28816_73+28817del
ENST00000613374.4:c.159-28041_159-28040del	ENSP00000484464.1:n.159-28041_159-28040del
ENST00000613706.4:c.215+16465_215+16466del	ENSP00000484976.1:n.215+16465_215+16466del
ENST00000617164.4:c.1221_1222del	ENSP00000480470.1:p.His407GlnfsTer12
ENST00000619009.4:c.364+11701_364+11702del	ENSP00000482293.1:n.364+11701_364+11702del
ENST00000620057.4:c.365-11284_365-11283del	ENSP00000481988.1:n.365-11284_365-11283del
NM_000465.3:c.1278_1279del	NP_000456.2:p.His426GlnfsTer12
NM_001282543.1:c.1221_1222del	NP_001269472.1:p.His407GlnfsTer12
NM_001282545.1:c.215+16465_215+16466del	NP_001269474.1:n.215+16465_215+16466del
NM_001282548.1:c.159-28041_159-28040del	NP_001269477.1:n.159-28041_159-28040del
NM_001282549.1:c.364+11701_364+11702del	NP_001269478.1:n.364+11701_364+11702del
NR_104212.1:n.1271_1272del
NR_104215.1:n.1214_1215del
NR_104216.1:n.507-11284_507-11283del
XM_011511567.1:c.1224_1225del	XP_011509869.1:p.His408GlnfsTer12
XM_011511568.1:c.1278_1279del	XP_011509870.1:p.His426GlnfsTer12
XM_017004613.1:c.1377_1378del	XP_016860102.1:p.His459GlnfsTer12
XM_017004614.1:c.1377_1378del	XP_016860103.1:p.His459GlnfsTer12
XR_002959322.1:n.1468_1469del
NM_000465.4:c.1278_1279del MANE Select	NP_000456.2:p.His426GlnfsTer12
NM_001282543.2:c.1221_1222del	NP_001269472.1:p.His407GlnfsTer12
NM_001282545.2:c.215+16465_215+16466del	NP_001269474.1:n.215+16465_215+16466del
NM_001282548.2:c.159-28041_159-28040del	NP_001269477.1:n.159-28041_159-28040del
NM_001282549.2:c.364+11701_364+11702del	NP_001269478.1:n.364+11701_364+11702del
NR_104212.2:n.1243_1244del
NR_104215.2:n.1186_1187del
NR_104216.2:n.479-11284_479-11283del