Canonical Allele Identifier: CA614273529

Gene: FANCM

Linked Data

• dbSNP Id: rs1314529344
• gnomAD v2: 14-45628502-G-GATAAAA
• gnomAD v3: 14-45159299-G-GATAAAA
• gnomAD v4: 14-45159299-G-GATAAAA
• MyVariant Identifiers: chr14:g.45628508_45628509insATAAAA (hg19) ; chr14:g.45628502_45628503insATAAAA (hg19) ; chr14:g.45159299_45159300insATAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45159310_45159315dup , CM000676.2:g.45159310_45159315dup	GRCh38
NC_000014.8:g.45628513_45628518dup , CM000676.1:g.45628513_45628518dup	GRCh37
NC_000014.7:g.44698263_44698268dup	NCBI36
NG_007417.1:g.28378_28383dup , LRG_502:g.28378_28383dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556036.6:c.1581+30_1581+35dup	ENSP00000450596.1:n.1581+30_1581+35dup
ENST00000556250.6:c.1581+30_1581+35dup	ENSP00000452033.2:n.1581+30_1581+35dup
ENST00000696641.1:c.1422+30_1422+35dup	ENSP00000512774.1:n.1422+30_1422+35dup
ENST00000696642.1:c.*392+30_*392+35dup	ENSP00000512775.1:n.*392+30_*392+35dup
ENST00000696643.1:c.1611_1616dup	ENSP00000512776.1:p.Lys539_Ile540insAsnLys
ENST00000696646.1:c.*392+30_*392+35dup	ENSP00000512777.1:n.*392+30_*392+35dup
ENST00000696647.1:c.1581+30_1581+35dup	ENSP00000512778.1:n.1581+30_1581+35dup
ENST00000696648.1:c.1581+30_1581+35dup	ENSP00000512779.1:n.1581+30_1581+35dup
ENST00000696649.1:c.1581+30_1581+35dup	ENSP00000512780.1:n.1581+30_1581+35dup
ENST00000696650.1:n.1529+30_1529+35dup
ENST00000696658.1:n.2131+30_2131+35dup
ENST00000696662.1:c.1503+30_1503+35dup	ENSP00000512788.1:n.1503+30_1503+35dup
ENST00000696663.1:c.398+30_398+35dup
ENST00000696664.1:c.398+30_398+35dup
ENST00000696675.1:c.1581+30_1581+35dup	ENSP00000512799.1:n.1581+30_1581+35dup
ENST00000696681.1:c.*422_*427dup	ENSP00000512804.1:n.*422_*427dup
ENST00000696682.1:c.1581+30_1581+35dup	ENSP00000512805.1:n.1581+30_1581+35dup
ENST00000696683.1:c.398+30_398+35dup
ENST00000696684.1:c.398+30_398+35dup
ENST00000696685.1:c.398+30_398+35dup
ENST00000267430.10:c.1581+30_1581+35dup MANE Select	ENSP00000267430.5:n.1581+30_1581+35dup
ENST00000267430.9:c.1581+30_1581+35dup	ENSP00000267430.5:n.1581+30_1581+35dup
ENST00000542564.6:c.1503+30_1503+35dup	ENSP00000442493.2:n.1503+30_1503+35dup
ENST00000556036.5:c.1581+30_1581+35dup	ENSP00000450596.1:n.1581+30_1581+35dup
ENST00000556250.5:c.336+30_336+35dup	ENSP00000452033.1:n.336+30_336+35dup
NM_001308133.1:c.1503+30_1503+35dup	NP_001295062.1:n.1503+30_1503+35dup
NM_001308134.1:c.1581+30_1581+35dup	NP_001295063.1:n.1581+30_1581+35dup
NM_020937.2:c.1581+30_1581+35dup , LRG_502t1:c.1581+30_1581+35dup	NP_065988.1:n.1581+30_1581+35dup
NM_020937.3:c.1581+30_1581+35dup	NP_065988.1:n.1581+30_1581+35dup
XM_011537034.1:c.1581+30_1581+35dup	XP_011535336.1:n.1581+30_1581+35dup
XM_011537035.1:c.1503+30_1503+35dup	XP_011535337.1:n.1503+30_1503+35dup
XM_011537036.1:c.1581+30_1581+35dup	XP_011535338.1:n.1581+30_1581+35dup
XM_011537034.2:c.1581+30_1581+35dup	XP_011535336.1:n.1581+30_1581+35dup
XM_011537035.3:c.1503+30_1503+35dup	XP_011535337.1:n.1503+30_1503+35dup
XM_017021523.1:c.1581+30_1581+35dup	XP_016877012.1:n.1581+30_1581+35dup
XM_017021524.2:c.618+30_618+35dup	XP_016877013.1:n.618+30_618+35dup
XM_017021525.2:c.396+30_396+35dup	XP_016877014.1:n.396+30_396+35dup
XM_017021526.2:c.396+30_396+35dup	XP_016877015.1:n.396+30_396+35dup
XM_017021527.1:c.396+30_396+35dup	XP_016877016.1:n.396+30_396+35dup
XR_001750470.1:n.1673+30_1673+35dup
XR_001750471.2:n.1673+30_1673+35dup
XR_001750472.1:n.1673+30_1673+35dup
NM_020937.4:c.1581+30_1581+35dup MANE Select	NP_065988.1:n.1581+30_1581+35dup
NM_001308133.2:c.1503+30_1503+35dup	NP_001295062.1:n.1503+30_1503+35dup
NM_001308134.2:c.1581+30_1581+35dup	NP_001295063.1:n.1581+30_1581+35dup