Canonical Allele Identifier: CA913188069

Gene: BARD1

Linked Data

• ClinVar Variation Id: 924626
• ClinVar RCV Id: RCV001186100 ; RCV003462660
• dbSNP Id: rs1696478939

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214809571_214809572insGGACG , CM000664.2:g.214809571_214809572insGGACG	GRCh38
NC_000002.11:g.215674295_215674296insGGACG , CM000664.1:g.215674295_215674296insGGACG	GRCh37
NC_000002.10:g.215382540_215382541insGGACG	NCBI36
NG_012047.2:g.5135_5136insTCCCG
NG_012047.3:g.5142_5143insTCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.-1_1insTCCCG MANE Select	ENSP00000260947.4:p.Met1SerfsTer?
ENST00000421162.2:c.-1_1insTCCCG	ENSP00000392245.2:p.Met1SerfsTer?
ENST00000613192.2:c.-1_1insTCCCG	ENSP00000483275.2:p.Met1SerfsTer?
ENST00000613374.5:c.-1_1insTCCCG	ENSP00000484464.1:p.Met1SerfsTer?
ENST00000613706.5:c.-1_1insTCCCG	ENSP00000484976.2:p.Met1SerfsTer?
ENST00000617164.5:c.-1_1insTCCCG	ENSP00000480470.1:p.Met1SerfsTer?
ENST00000619009.5:c.-1_1insTCCCG	ENSP00000482293.1:p.Met1SerfsTer?
ENST00000260947.8:c.-1_1insTCCCG	ENSP00000260947.4:p.Met1SerfsTer?
ENST00000421162.1:c.-1_1insTCCCG	ENSP00000392245.1:p.Met1SerfsTer?
ENST00000455743.5:c.-1_1insTCCCG	ENSP00000412186.1:p.Met1SerfsTer?
ENST00000471787.1:n.101_102insTCCCG
ENST00000479904.1:n.91_92insTCCCG
ENST00000613192.1:c.-86_-85insTCCCG	ENSP00000483275.1:n.-86_-85insTCCCG
ENST00000613374.4:c.-1_1insTCCCG	ENSP00000484464.1:p.Met1SerfsTer?
ENST00000613706.4:c.-1_1insTCCCG	ENSP00000484976.1:p.Met1SerfsTer?
ENST00000617164.4:c.-1_1insTCCCG	ENSP00000480470.1:p.Met1SerfsTer?
ENST00000619009.4:c.-1_1insTCCCG	ENSP00000482293.1:p.Met1SerfsTer?
ENST00000620057.4:c.-1_1insTCCCG	ENSP00000481988.1:p.Met1SerfsTer?
NM_000465.3:c.-1_1insTCCCG	NP_000456.2:p.Met1SerfsTer?
NM_001282543.1:c.-1_1insTCCCG	NP_001269472.1:p.Met1SerfsTer?
NM_001282545.1:c.-1_1insTCCCG	NP_001269474.1:p.Met1SerfsTer?
NM_001282548.1:c.-1_1insTCCCG	NP_001269477.1:p.Met1SerfsTer?
NM_001282549.1:c.-1_1insTCCCG	NP_001269478.1:p.Met1SerfsTer?
NR_104212.1:n.142_143insTCCCG
NR_104215.1:n.142_143insTCCCG
NR_104216.1:n.142_143insTCCCG
XM_011511568.1:c.-1_1insTCCCG	XP_011509870.1:p.Met1SerfsTer?
XM_017004613.1:c.-1_1insTCCCG	XP_016860102.1:p.Met1SerfsTer?
XM_017004614.1:c.-1_1insTCCCG	XP_016860103.1:p.Met1SerfsTer?
XR_002959322.1:n.91_92insTCCCG
NM_000465.4:c.-1_1insTCCCG MANE Select	NP_000456.2:p.Met1SerfsTer?
NM_001282543.2:c.-1_1insTCCCG	NP_001269472.1:p.Met1SerfsTer?
NM_001282545.2:c.-1_1insTCCCG	NP_001269474.1:p.Met1SerfsTer?
NM_001282548.2:c.-1_1insTCCCG	NP_001269477.1:p.Met1SerfsTer?
NM_001282549.2:c.-1_1insTCCCG	NP_001269478.1:p.Met1SerfsTer?
NR_104212.2:n.114_115insTCCCG
NR_104215.2:n.114_115insTCCCG
NR_104216.2:n.114_115insTCCCG