Canonical Allele Identifier: CA539522489

Gene: BARD1

Linked Data

• dbSNP Id: rs1559454573
• gnomAD v2: 2-215674223-G-GAC
• gnomAD v4: 2-214809499-G-GAC
• MyVariant Identifiers: chr2:g.215674223_215674224insAC (hg19) ; chr2:g.214809499_214809500insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214809499_214809500insAC , CM000664.2:g.214809499_214809500insAC	GRCh38
NC_000002.11:g.215674223_215674224insAC , CM000664.1:g.215674223_215674224insAC	GRCh37
NC_000002.10:g.215382468_215382469insAC	NCBI36
NG_012047.2:g.5205_5206insGT
NG_012047.3:g.5212_5213insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.70_71insGT MANE Select	ENSP00000260947.4:p.Pro24ArgfsTer?
ENST00000421162.2:c.70_71insGT	ENSP00000392245.2:p.Pro24ArgfsTer?
ENST00000613192.2:c.70_71insGT	ENSP00000483275.2:p.Pro24ArgfsTer?
ENST00000613374.5:c.70_71insGT	ENSP00000484464.1:p.Pro24ArgfsTer?
ENST00000613706.5:c.70_71insGT	ENSP00000484976.2:p.Pro24ArgfsTer?
ENST00000617164.5:c.70_71insGT	ENSP00000480470.1:p.Pro24ArgfsTer?
ENST00000619009.5:c.70_71insGT	ENSP00000482293.1:p.Pro24ArgfsTer?
ENST00000260947.8:c.70_71insGT	ENSP00000260947.4:p.Pro24ArgfsTer?
ENST00000421162.1:c.70_71insGT	ENSP00000392245.1:p.Pro24ArgfsTer?
ENST00000455743.5:c.70_71insGT	ENSP00000412186.1:p.Pro24ArgfsTer?
ENST00000471787.1:n.171_172insGT
ENST00000479904.1:n.161_162insGT
ENST00000613192.1:c.-16_-15insGT	ENSP00000483275.1:n.-16_-15insGT
ENST00000613374.4:c.70_71insGT	ENSP00000484464.1:p.Pro24ArgfsTer?
ENST00000613706.4:c.70_71insGT	ENSP00000484976.1:p.Pro24ArgfsTer?
ENST00000617164.4:c.70_71insGT	ENSP00000480470.1:p.Pro24ArgfsTer?
ENST00000619009.4:c.70_71insGT	ENSP00000482293.1:p.Pro24ArgfsTer?
ENST00000620057.4:c.70_71insGT	ENSP00000481988.1:p.Pro24ArgfsTer?
NM_000465.3:c.70_71insGT	NP_000456.2:p.Pro24ArgfsTer?
NM_001282543.1:c.70_71insGT	NP_001269472.1:p.Pro24ArgfsTer?
NM_001282545.1:c.70_71insGT	NP_001269474.1:p.Pro24ArgfsTer?
NM_001282548.1:c.70_71insGT	NP_001269477.1:p.Pro24ArgfsTer?
NM_001282549.1:c.70_71insGT	NP_001269478.1:p.Pro24ArgfsTer?
NR_104212.1:n.212_213insGT
NR_104215.1:n.212_213insGT
NR_104216.1:n.212_213insGT
XM_011511568.1:c.70_71insGT	XP_011509870.1:p.Pro24ArgfsTer?
XM_017004613.1:c.70_71insGT	XP_016860102.1:p.Pro24ArgfsTer?
XM_017004614.1:c.70_71insGT	XP_016860103.1:p.Pro24ArgfsTer?
XR_002959322.1:n.161_162insGT
NM_000465.4:c.70_71insGT MANE Select	NP_000456.2:p.Pro24ArgfsTer?
NM_001282543.2:c.70_71insGT	NP_001269472.1:p.Pro24ArgfsTer?
NM_001282545.2:c.70_71insGT	NP_001269474.1:p.Pro24ArgfsTer?
NM_001282548.2:c.70_71insGT	NP_001269477.1:p.Pro24ArgfsTer?
NM_001282549.2:c.70_71insGT	NP_001269478.1:p.Pro24ArgfsTer?
NR_104212.2:n.184_185insGT
NR_104215.2:n.184_185insGT
NR_104216.2:n.184_185insGT