Canonical Allele Identifier: CA962640334
Community Standard Title: NM_020937.4(FANCM):c.2002+5A>G
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45167168A>G , CM000676.2:g.45167168A>G GRCh38
NC_000014.8:g.45636371A>G , CM000676.1:g.45636371A>G GRCh37
NC_000014.7:g.44706121A>G NCBI36
NG_007417.1:g.36236A>G , LRG_502:g.36236A>G

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.2002+5A>G MANE Select NP_065988.1:n.2002+5A>G
ENST00000267430.10:c.2002+5A>G MANE Select ENSP00000267430.5:n.2002+5A>G
NM_001308133.1:c.1924+5A>G NP_001295062.1:n.1924+5A>G
NM_001308133.2:c.1924+5A>G NP_001295062.1:n.1924+5A>G
NM_001308134.1:c.2007A>G NP_001295063.1:p.Lys669=
NM_001308134.2:c.2007A>G NP_001295063.1:p.Lys669=
NM_020937.2:c.2002+5A>G , LRG_502t1:c.2002+5A>G NP_065988.1:n.2002+5A>G
NM_020937.3:c.2002+5A>G NP_065988.1:n.2002+5A>G
ENST00000267430.9:c.2002+5A>G ENSP00000267430.5:n.2002+5A>G
ENST00000542564.6:c.1924+5A>G ENSP00000442493.2:n.1924+5A>G
ENST00000554809.6:c.214+5A>G ENSP00000450632.2:n.214+5A>G
ENST00000556036.5:c.2007A>G ENSP00000450596.1:p.Lys669=
ENST00000556036.6:c.2007A>G ENSP00000450596.1:p.Lys669=
ENST00000556250.5:c.550+5A>G ENSP00000452033.1:n.550+5A>G
ENST00000556250.6:c.1795+5A>G ENSP00000452033.2:n.1795+5A>G
ENST00000696641.1:c.1843+5A>G ENSP00000512774.1:n.1843+5A>G
ENST00000696642.1:c.*813+5A>G ENSP00000512775.1:n.*813+5A>G
ENST00000696646.1:c.*813+5A>G ENSP00000512777.1:n.*813+5A>G
ENST00000696647.1:c.2002+5A>G ENSP00000512778.1:n.2002+5A>G
ENST00000696648.1:c.2002+5A>G ENSP00000512779.1:n.2002+5A>G
ENST00000696649.1:c.2002+5A>G ENSP00000512780.1:n.2002+5A>G
ENST00000696650.1:n.1950+5A>G
ENST00000696658.1:n.2552+5A>G
ENST00000696662.1:c.1929A>G ENSP00000512788.1:p.Lys643=
ENST00000696663.1:c.819+5A>G
ENST00000696664.1:c.819+5A>G
ENST00000696675.1:c.2002+5A>G ENSP00000512799.1:n.2002+5A>G
ENST00000696683.1:c.819+5A>G
ENST00000696684.1:c.819+5A>G
ENST00000696685.1:c.819+5A>G
XM_011537034.1:c.2002+5A>G XP_011535336.1:n.2002+5A>G
XM_011537034.2:c.2002+5A>G XP_011535336.1:n.2002+5A>G
XM_011537035.1:c.1924+5A>G XP_011535337.1:n.1924+5A>G
XM_011537035.3:c.1924+5A>G XP_011535337.1:n.1924+5A>G
XM_011537036.1:c.2002+5A>G XP_011535338.1:n.2002+5A>G
XM_017021523.1:c.2002+5A>G XP_016877012.1:n.2002+5A>G
XM_017021524.2:c.1039+5A>G XP_016877013.1:n.1039+5A>G
XM_017021525.2:c.817+5A>G XP_016877014.1:n.817+5A>G
XM_017021526.2:c.817+5A>G XP_016877015.1:n.817+5A>G
XM_017021527.1:c.817+5A>G XP_016877016.1:n.817+5A>G
XR_001750470.1:n.2094+5A>G
XR_001750471.2:n.2094+5A>G
XR_001750472.1:n.2094+5A>G