Canonical Allele Identifier: CA2580065592
Community Standard Title: NM_000465.4(BARD1):c.1568+5G>A
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214767477C>T , CM000664.2:g.214767477C>T GRCh38
NC_000002.11:g.215632201C>T , CM000664.1:g.215632201C>T GRCh37
NC_000002.10:g.215340446C>T NCBI36
NG_012047.2:g.47228G>A
NG_012047.3:g.47235G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.1568+5G>A MANE Select NP_000456.2:n.1568+5G>A
ENST00000260947.9:c.1568+5G>A MANE Select ENSP00000260947.4:n.1568+5G>A
NM_000465.3:c.1568+5G>A NP_000456.2:n.1568+5G>A
NM_001282543.1:c.1511+5G>A NP_001269472.1:n.1511+5G>A
NM_001282543.2:c.1511+5G>A NP_001269472.1:n.1511+5G>A
NM_001282545.1:c.216-14922G>A NP_001269474.1:n.216-14922G>A
NM_001282545.2:c.216-14922G>A NP_001269474.1:n.216-14922G>A
NM_001282548.1:c.159-14922G>A NP_001269477.1:n.159-14922G>A
NM_001282548.2:c.159-14922G>A NP_001269477.1:n.159-14922G>A
NM_001282549.1:c.364+24820G>A NP_001269478.1:n.364+24820G>A
NM_001282549.2:c.364+24820G>A NP_001269478.1:n.364+24820G>A
NR_104212.1:n.1561+5G>A
NR_104212.2:n.1533+5G>A
NR_104215.1:n.1504+5G>A
NR_104215.2:n.1476+5G>A
NR_104216.1:n.760+5G>A
NR_104216.2:n.732+5G>A
ENST00000260947.8:c.1568+5G>A ENSP00000260947.4:n.1568+5G>A
ENST00000421162.1:c.216-14922G>A ENSP00000392245.1:n.216-14922G>A
ENST00000421162.2:c.216-14922G>A ENSP00000392245.2:n.216-14922G>A
ENST00000455743.5:c.*1188+5G>A ENSP00000412186.1:n.*1188+5G>A
ENST00000613192.1:c.74-36969G>A ENSP00000483275.1:n.74-36969G>A
ENST00000613192.2:c.159-36969G>A ENSP00000483275.2:n.159-36969G>A
ENST00000613374.4:c.159-14922G>A ENSP00000484464.1:n.159-14922G>A
ENST00000613374.5:c.159-14922G>A ENSP00000484464.1:n.159-14922G>A
ENST00000613706.4:c.216-14922G>A ENSP00000484976.1:n.216-14922G>A
ENST00000613706.5:c.1160+5G>A ENSP00000484976.2:n.1160+5G>A
ENST00000617164.4:c.1511+5G>A ENSP00000480470.1:n.1511+5G>A
ENST00000617164.5:c.1511+5G>A ENSP00000480470.1:n.1511+5G>A
ENST00000619009.4:c.364+24820G>A ENSP00000482293.1:n.364+24820G>A
ENST00000619009.5:c.364+24820G>A ENSP00000482293.1:n.364+24820G>A
ENST00000620057.4:c.*234+5G>A ENSP00000481988.1:n.*234+5G>A
ENST00000650978.1:c.2943+5G>A
XM_011511567.1:c.1514+5G>A XP_011509869.1:n.1514+5G>A
XM_011511568.1:c.1568+5G>A XP_011509870.1:n.1568+5G>A
XM_017004613.1:c.1667+5G>A XP_016860102.1:n.1667+5G>A
XM_017004614.1:c.1667+5G>A XP_016860103.1:n.1667+5G>A
XR_002959322.1:n.1758+5G>A