Canonical Allele Identifier: CA2416742676
Community Standard Title: NM_001018113.3(FANCB):c.2165+6G>A
Gene: FANCB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.14844497C>T , CM000685.2:g.14844497C>T GRCh38
NC_000023.10:g.14862619C>T , CM000685.1:g.14862619C>T GRCh37
NC_000023.9:g.14772540C>T NCBI36
NG_007310.1:g.33566G>A , LRG_496:g.33566G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001018113.3:c.2165+6G>A MANE Select NP_001018123.1:n.2165+6G>A
ENST00000650831.1:c.2165+6G>A MANE Select ENSP00000498215.1:n.2165+6G>A
NM_001018113.1:c.2165+6G>A , LRG_496t1:c.2165+6G>A NP_001018123.1:n.2165+6G>A
NM_001018113.2:c.2165+6G>A NP_001018123.1:n.2165+6G>A
NM_001324162.1:c.2165+6G>A NP_001311091.1:n.2165+6G>A
NM_001324162.2:c.2165+6G>A NP_001311091.1:n.2165+6G>A
NM_152633.2:c.2165+6G>A NP_689846.1:n.2165+6G>A
NM_152633.3:c.2165+6G>A NP_689846.1:n.2165+6G>A
NM_152633.4:c.2165+6G>A NP_689846.1:n.2165+6G>A
ENST00000324138.7:c.2165+6G>A ENSP00000326819.3:n.2165+6G>A
ENST00000398334.5:c.2165+6G>A ENSP00000381378.1:n.2165+6G>A
ENST00000452869.1:c.2165+6G>A ENSP00000397849.1:n.2165+6G>A
ENST00000452869.2:c.2165+6G>A ENSP00000397849.2:n.2165+6G>A
ENST00000643728.1:c.*1244+6G>A ENSP00000495047.1:n.*1244+6G>A
ENST00000643728.2:c.*1244+6G>A ENSP00000495047.1:n.*1244+6G>A
ENST00000646255.1:c.*1157+6G>A ENSP00000494963.1:n.*1157+6G>A
ENST00000696311.1:c.2165+6G>A ENSP00000512549.1:n.2165+6G>A
ENST00000696312.1:c.2165+6G>A ENSP00000512550.1:n.2165+6G>A
ENST00000696322.1:c.1538+6G>A
ENST00000696351.1:c.2165+6G>A ENSP00000512572.1:n.2165+6G>A
ENST00000696352.1:c.2165+6G>A ENSP00000512573.1:n.2165+6G>A
ENST00000696353.1:c.2165+6G>A ENSP00000512574.1:n.2165+6G>A
ENST00000696354.1:c.2165+6G>A ENSP00000512575.1:n.2165+6G>A
ENST00000696355.1:c.*195+6G>A ENSP00000512576.1:n.*195+6G>A
ENST00000696356.1:c.2165+6G>A ENSP00000512577.1:n.2165+6G>A
ENST00000696357.1:c.2165+6G>A ENSP00000512578.1:n.2165+6G>A
XM_011545470.1:c.2165+6G>A XP_011543772.1:n.2165+6G>A
XM_011545470.2:c.2165+6G>A XP_011543772.1:n.2165+6G>A
XM_017029355.2:c.2165+6G>A XP_016884844.1:n.2165+6G>A
XM_017029356.1:c.2165+6G>A XP_016884845.1:n.2165+6G>A
XR_001755672.1:n.2626+6G>A
XR_001755673.1:n.2418+6G>A
XR_001755674.1:n.2319+6G>A