Canonical Allele Identifier: CA7169276
Community Standard Title: NM_020937.4(FANCM):c.2161-9A>T
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45173046A>T , CM000676.2:g.45173046A>T GRCh38
NC_000014.8:g.45642249A>T , CM000676.1:g.45642249A>T GRCh37
NC_000014.7:g.44711999A>T NCBI36
NG_007417.1:g.42114A>T , LRG_502:g.42114A>T

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.2161-9A>T MANE Select NP_065988.1:n.2161-9A>T
ENST00000267430.10:c.2161-9A>T MANE Select ENSP00000267430.5:n.2161-9A>T
NM_001308133.1:c.2083-9A>T NP_001295062.1:n.2083-9A>T
NM_001308133.2:c.2083-9A>T NP_001295062.1:n.2083-9A>T
NM_020937.2:c.2161-9A>T , LRG_502t1:c.2161-9A>T NP_065988.1:n.2161-9A>T
NM_020937.3:c.2161-9A>T NP_065988.1:n.2161-9A>T
ENST00000267430.9:c.2161-9A>T ENSP00000267430.5:n.2161-9A>T
ENST00000542564.6:c.2083-9A>T ENSP00000442493.2:n.2083-9A>T
ENST00000554809.6:c.373-9A>T ENSP00000450632.2:n.373-9A>T
ENST00000556250.5:c.709-9A>T ENSP00000452033.1:n.709-9A>T
ENST00000556250.6:c.1954-9A>T ENSP00000452033.2:n.1954-9A>T
ENST00000696641.1:c.2002-9A>T ENSP00000512774.1:n.2002-9A>T
ENST00000696642.1:c.*972-9A>T ENSP00000512775.1:n.*972-9A>T
ENST00000696646.1:c.*972-9A>T ENSP00000512777.1:n.*972-9A>T
ENST00000696647.1:c.2161-9A>T ENSP00000512778.1:n.2161-9A>T
ENST00000696648.1:c.*186-9A>T ENSP00000512779.1:n.*186-9A>T
ENST00000696649.1:c.2161-2025A>T ENSP00000512780.1:n.2161-2025A>T
ENST00000696650.1:n.2109-9A>T
ENST00000696658.1:n.2711-9A>T
ENST00000696659.1:c.159-9A>T
ENST00000696663.1:c.978-9A>T
ENST00000696664.1:c.978-9A>T
ENST00000696675.1:c.2161-9A>T ENSP00000512799.1:n.2161-9A>T
ENST00000696683.1:c.978-9A>T
ENST00000696684.1:c.978-9A>T
ENST00000696685.1:c.978-9A>T
XM_011537034.1:c.2161-9A>T XP_011535336.1:n.2161-9A>T
XM_011537034.2:c.2161-9A>T XP_011535336.1:n.2161-9A>T
XM_011537035.1:c.2083-9A>T XP_011535337.1:n.2083-9A>T
XM_011537035.3:c.2083-9A>T XP_011535337.1:n.2083-9A>T
XM_011537036.1:c.2161-9A>T XP_011535338.1:n.2161-9A>T
XM_011537037.1:c.175-9A>T XP_011535339.1:n.175-9A>T
XM_011537037.3:c.175-9A>T XP_011535339.1:n.175-9A>T
XM_017021523.1:c.2161-9A>T XP_016877012.1:n.2161-9A>T
XM_017021524.2:c.1198-9A>T XP_016877013.1:n.1198-9A>T
XM_017021525.2:c.976-9A>T XP_016877014.1:n.976-9A>T
XM_017021526.2:c.976-9A>T XP_016877015.1:n.976-9A>T
XM_017021527.1:c.976-9A>T XP_016877016.1:n.976-9A>T
XR_001750470.1:n.2253-9A>T
XR_001750471.2:n.2253-9A>T
XR_001750472.1:n.2253-9A>T