Canonical Allele Identifier: CA2573135152

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1686499
• ClinVar RCV Id: RCV002247012
• dbSNP Id: rs2106171546

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214809502_214809503insGAACGAGGCTCGTTCG , CM000664.2:g.214809502_214809503insGAACGAGGCTCGTTCG	GRCh38
NC_000002.11:g.215674226_215674227insGAACGAGGCTCGTTCG , CM000664.1:g.215674226_215674227insGAACGAGGCTCGTTCG	GRCh37
NC_000002.10:g.215382471_215382472insGAACGAGGCTCGTTCG	NCBI36
NG_012047.2:g.5204_5205insAACGAGCCTCGTTCCG
NG_012047.3:g.5211_5212insAACGAGCCTCGTTCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.69_70insAACGAGCCTCGTTCCG MANE Select	ENSP00000260947.4:p.Pro24AsnfsTer?
ENST00000421162.2:c.69_70insAACGAGCCTCGTTCCG	ENSP00000392245.2:p.Pro24AsnfsTer?
ENST00000613192.2:c.69_70insAACGAGCCTCGTTCCG	ENSP00000483275.2:p.Pro24AsnfsTer?
ENST00000613374.5:c.69_70insAACGAGCCTCGTTCCG	ENSP00000484464.1:p.Pro24AsnfsTer?
ENST00000613706.5:c.69_70insAACGAGCCTCGTTCCG	ENSP00000484976.2:p.Pro24AsnfsTer?
ENST00000617164.5:c.69_70insAACGAGCCTCGTTCCG	ENSP00000480470.1:p.Pro24AsnfsTer?
ENST00000619009.5:c.69_70insAACGAGCCTCGTTCCG	ENSP00000482293.1:p.Pro24AsnfsTer?
ENST00000260947.8:c.69_70insAACGAGCCTCGTTCCG	ENSP00000260947.4:p.Pro24AsnfsTer?
ENST00000421162.1:c.69_70insAACGAGCCTCGTTCCG	ENSP00000392245.1:p.Pro24AsnfsTer?
ENST00000455743.5:c.69_70insAACGAGCCTCGTTCCG	ENSP00000412186.1:p.Pro24AsnfsTer?
ENST00000471787.1:n.170_171insAACGAGCCTCGTTCCG
ENST00000479904.1:n.160_161insAACGAGCCTCGTTCCG
ENST00000613192.1:c.-17_-16insAACGAGCCTCGTTCCG	ENSP00000483275.1:n.-17_-16insAACGAGCCTCGTTCCG
ENST00000613374.4:c.69_70insAACGAGCCTCGTTCCG	ENSP00000484464.1:p.Pro24AsnfsTer?
ENST00000613706.4:c.69_70insAACGAGCCTCGTTCCG	ENSP00000484976.1:p.Pro24AsnfsTer?
ENST00000617164.4:c.69_70insAACGAGCCTCGTTCCG	ENSP00000480470.1:p.Pro24AsnfsTer?
ENST00000619009.4:c.69_70insAACGAGCCTCGTTCCG	ENSP00000482293.1:p.Pro24AsnfsTer?
ENST00000620057.4:c.69_70insAACGAGCCTCGTTCCG	ENSP00000481988.1:p.Pro24AsnfsTer?
NM_000465.3:c.69_70insAACGAGCCTCGTTCCG	NP_000456.2:p.Pro24AsnfsTer?
NM_001282543.1:c.69_70insAACGAGCCTCGTTCCG	NP_001269472.1:p.Pro24AsnfsTer?
NM_001282545.1:c.69_70insAACGAGCCTCGTTCCG	NP_001269474.1:p.Pro24AsnfsTer?
NM_001282548.1:c.69_70insAACGAGCCTCGTTCCG	NP_001269477.1:p.Pro24AsnfsTer?
NM_001282549.1:c.69_70insAACGAGCCTCGTTCCG	NP_001269478.1:p.Pro24AsnfsTer?
NR_104212.1:n.211_212insAACGAGCCTCGTTCCG
NR_104215.1:n.211_212insAACGAGCCTCGTTCCG
NR_104216.1:n.211_212insAACGAGCCTCGTTCCG
XM_011511568.1:c.69_70insAACGAGCCTCGTTCCG	XP_011509870.1:p.Pro24AsnfsTer?
XM_017004613.1:c.69_70insAACGAGCCTCGTTCCG	XP_016860102.1:p.Pro24AsnfsTer?
XM_017004614.1:c.69_70insAACGAGCCTCGTTCCG	XP_016860103.1:p.Pro24AsnfsTer?
XR_002959322.1:n.160_161insAACGAGCCTCGTTCCG
NM_000465.4:c.69_70insAACGAGCCTCGTTCCG MANE Select	NP_000456.2:p.Pro24AsnfsTer?
NM_001282543.2:c.69_70insAACGAGCCTCGTTCCG	NP_001269472.1:p.Pro24AsnfsTer?
NM_001282545.2:c.69_70insAACGAGCCTCGTTCCG	NP_001269474.1:p.Pro24AsnfsTer?
NM_001282548.2:c.69_70insAACGAGCCTCGTTCCG	NP_001269477.1:p.Pro24AsnfsTer?
NM_001282549.2:c.69_70insAACGAGCCTCGTTCCG	NP_001269478.1:p.Pro24AsnfsTer?
NR_104212.2:n.183_184insAACGAGCCTCGTTCCG
NR_104215.2:n.183_184insAACGAGCCTCGTTCCG
NR_104216.2:n.183_184insAACGAGCCTCGTTCCG