Canonical Allele Identifier: CA350448971
Community Standard Title: NM_000465.4(BARD1):c.1396-1G>A
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214767655C>T , CM000664.2:g.214767655C>T GRCh38
NC_000002.11:g.215632379C>T , CM000664.1:g.215632379C>T GRCh37
NC_000002.10:g.215340624C>T NCBI36
NG_012047.2:g.47050G>A
NG_012047.3:g.47057G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.1396-1G>A MANE Select NP_000456.2:n.1396-1G>A
ENST00000260947.9:c.1396-1G>A MANE Select ENSP00000260947.4:n.1396-1G>A
NM_000465.3:c.1396-1G>A NP_000456.2:n.1396-1G>A
NM_001282543.1:c.1339-1G>A NP_001269472.1:n.1339-1G>A
NM_001282543.2:c.1339-1G>A NP_001269472.1:n.1339-1G>A
NM_001282545.1:c.216-15100G>A NP_001269474.1:n.216-15100G>A
NM_001282545.2:c.216-15100G>A NP_001269474.1:n.216-15100G>A
NM_001282548.1:c.159-15100G>A NP_001269477.1:n.159-15100G>A
NM_001282548.2:c.159-15100G>A NP_001269477.1:n.159-15100G>A
NM_001282549.1:c.364+24642G>A NP_001269478.1:n.364+24642G>A
NM_001282549.2:c.364+24642G>A NP_001269478.1:n.364+24642G>A
NR_104212.1:n.1389-1G>A
NR_104212.2:n.1361-1G>A
NR_104215.1:n.1332-1G>A
NR_104215.2:n.1304-1G>A
NR_104216.1:n.588-1G>A
NR_104216.2:n.560-1G>A
ENST00000260947.8:c.1396-1G>A ENSP00000260947.4:n.1396-1G>A
ENST00000421162.1:c.216-15100G>A ENSP00000392245.1:n.216-15100G>A
ENST00000421162.2:c.216-15100G>A ENSP00000392245.2:n.216-15100G>A
ENST00000455743.5:c.*1016-1G>A ENSP00000412186.1:n.*1016-1G>A
ENST00000613192.1:c.74-37147G>A ENSP00000483275.1:n.74-37147G>A
ENST00000613192.2:c.159-37147G>A ENSP00000483275.2:n.159-37147G>A
ENST00000613374.4:c.159-15100G>A ENSP00000484464.1:n.159-15100G>A
ENST00000613374.5:c.159-15100G>A ENSP00000484464.1:n.159-15100G>A
ENST00000613706.4:c.216-15100G>A ENSP00000484976.1:n.216-15100G>A
ENST00000613706.5:c.988-1G>A ENSP00000484976.2:n.988-1G>A
ENST00000617164.4:c.1339-1G>A ENSP00000480470.1:n.1339-1G>A
ENST00000617164.5:c.1339-1G>A ENSP00000480470.1:n.1339-1G>A
ENST00000619009.4:c.364+24642G>A ENSP00000482293.1:n.364+24642G>A
ENST00000619009.5:c.364+24642G>A ENSP00000482293.1:n.364+24642G>A
ENST00000620057.4:c.*62-1G>A ENSP00000481988.1:n.*62-1G>A
ENST00000650978.1:c.2771-1G>A
XM_011511567.1:c.1342-1G>A XP_011509869.1:n.1342-1G>A
XM_011511568.1:c.1396-1G>A XP_011509870.1:n.1396-1G>A
XM_017004613.1:c.1495-1G>A XP_016860102.1:n.1495-1G>A
XM_017004614.1:c.1495-1G>A XP_016860103.1:n.1495-1G>A
XR_002959322.1:n.1586-1G>A