Canonical Allele Identifier: CA389585866

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45196277A>T , CM000676.2:g.45196277A>T	GRCh38
NC_000014.8:g.45665480A>T , CM000676.1:g.45665480A>T	GRCh37
NC_000014.7:g.44735230A>T	NCBI36
NG_007417.1:g.65345A>T , LRG_502:g.65345A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.5446A>T MANE Select	NP_065988.1:p.Lys1816Ter
ENST00000267430.10:c.5446A>T MANE Select	ENSP00000267430.5:p.Lys1816Ter
NM_001308133.1:c.5368A>T	NP_001295062.1:p.Lys1790Ter
NM_001308133.2:c.5368A>T	NP_001295062.1:p.Lys1790Ter
NM_020937.2:c.5446A>T , LRG_502t1:c.5446A>T	NP_065988.1:p.Lys1816Ter
NM_020937.3:c.5446A>T	NP_065988.1:p.Lys1816Ter
ENST00000267430.9:c.5446A>T	ENSP00000267430.5:p.Lys1816Ter
ENST00000542564.6:c.5368A>T	ENSP00000442493.2:p.Lys1790Ter
ENST00000554809.5:c.2348A>T
ENST00000554809.6:c.3763A>T	ENSP00000450632.2:p.Lys1255Ter
ENST00000555484.2:c.1224A>T
ENST00000556250.5:c.3994A>T	ENSP00000452033.1:p.Lys1332Ter
ENST00000556250.6:c.5239A>T	ENSP00000452033.2:p.Lys1747Ter
ENST00000557110.1:c.106A>T	ENSP00000451846.1:p.Lys36Ter
ENST00000557110.2:c.1224A>T
ENST00000696645.1:n.1336A>T
ENST00000696647.1:c.5341-2367A>T	ENSP00000512778.1:n.5341-2367A>T
ENST00000696648.1:c.*3471A>T	ENSP00000512779.1:n.*3471A>T
ENST00000696649.1:c.5290A>T	ENSP00000512780.1:p.Lys1764Ter
ENST00000696651.1:n.1886A>T
ENST00000696659.1:c.3339-2367A>T
ENST00000696663.1:c.4377A>T
ENST00000696664.1:c.4278A>T
ENST00000696665.1:c.1224A>T
ENST00000696675.1:c.*1202A>T	ENSP00000512799.1:n.*1202A>T
ENST00000696683.1:c.4074A>T
ENST00000696684.1:c.4158-3593A>T
ENST00000696685.1:c.4263A>T
ENST00000696686.1:n.2183A>T
XM_011537034.1:c.5461A>T	XP_011535336.1:p.Lys1821Ter
XM_011537034.2:c.5461A>T	XP_011535336.1:p.Lys1821Ter
XM_011537035.1:c.5383A>T	XP_011535337.1:p.Lys1795Ter
XM_011537035.3:c.5383A>T	XP_011535337.1:p.Lys1795Ter
XM_011537036.1:c.5356-2367A>T	XP_011535338.1:n.5356-2367A>T
XM_011537037.1:c.3475A>T	XP_011535339.1:p.Lys1159Ter
XM_011537037.3:c.3475A>T	XP_011535339.1:p.Lys1159Ter
XM_017021523.1:c.5356-3593A>T	XP_016877012.1:n.5356-3593A>T
XM_017021524.2:c.4498A>T	XP_016877013.1:p.Lys1500Ter
XM_017021525.2:c.4276A>T	XP_016877014.1:p.Lys1426Ter
XM_017021526.2:c.4276A>T	XP_016877015.1:p.Lys1426Ter
XM_017021527.1:c.4261A>T	XP_016877016.1:p.Lys1421Ter
XR_001750470.1:n.5448-2367A>T
XR_001750471.2:n.5433-2367A>T