Canonical Allele Identifier: CA7169058

Gene: FANCM

Linked Data

• dbSNP Id: rs776300302
• ExAC: 14:45628365 G / GA
• gnomAD v2: 14-45628365-G-GA
• gnomAD v4: 14-45159162-G-GA
• MyVariant Identifiers: chr14:g.45628365_45628366insA (hg19) ; chr14:g.45159162_45159163insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45159162_45159163insA , CM000676.2:g.45159162_45159163insA	GRCh38
NC_000014.8:g.45628365_45628366insA , CM000676.1:g.45628365_45628366insA	GRCh37
NC_000014.7:g.44698115_44698116insA	NCBI36
NG_007417.1:g.28230_28231insA , LRG_502:g.28230_28231insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556036.6:c.1463_1464insA	ENSP00000450596.1:p.Ser488ArgfsTer17
ENST00000556250.6:c.1463_1464insA	ENSP00000452033.2:p.Ser488ArgfsTer17
ENST00000696641.1:c.1304_1305insA	ENSP00000512774.1:p.Ser435ArgfsTer17
ENST00000696642.1:c.*274_*275insA	ENSP00000512775.1:n.*274_*275insA
ENST00000696643.1:c.1463_1464insA	ENSP00000512776.1:p.Ser488ArgfsTer17
ENST00000696646.1:c.*274_*275insA	ENSP00000512777.1:n.*274_*275insA
ENST00000696647.1:c.1463_1464insA	ENSP00000512778.1:p.Ser488ArgfsTer17
ENST00000696648.1:c.1463_1464insA	ENSP00000512779.1:p.Ser488ArgfsTer17
ENST00000696649.1:c.1463_1464insA	ENSP00000512780.1:p.Ser488ArgfsTer17
ENST00000696650.1:n.1411_1412insA
ENST00000696658.1:n.2013_2014insA
ENST00000696662.1:c.1385_1386insA	ENSP00000512788.1:p.Ser462ArgfsTer17
ENST00000696663.1:c.280_281insA
ENST00000696664.1:c.280_281insA
ENST00000696675.1:c.1463_1464insA	ENSP00000512799.1:p.Ser488ArgfsTer17
ENST00000696680.1:c.1331_1332insA	ENSP00000512803.1:p.Ser444ArgfsTer17
ENST00000696681.1:c.*274_*275insA	ENSP00000512804.1:n.*274_*275insA
ENST00000696682.1:c.1463_1464insA	ENSP00000512805.1:p.Ser488ArgfsTer17
ENST00000696683.1:c.280_281insA
ENST00000696684.1:c.280_281insA
ENST00000696685.1:c.280_281insA
ENST00000267430.10:c.1463_1464insA MANE Select	ENSP00000267430.5:p.Ser488ArgfsTer17
ENST00000267430.9:c.1463_1464insA	ENSP00000267430.5:p.Ser488ArgfsTer17
ENST00000542564.6:c.1385_1386insA	ENSP00000442493.2:p.Ser462ArgfsTer17
ENST00000556036.5:c.1463_1464insA	ENSP00000450596.1:p.Ser488ArgfsTer17
ENST00000556250.5:c.218_219insA	ENSP00000452033.1:p.Ser73ArgfsTer17
NM_001308133.1:c.1385_1386insA	NP_001295062.1:p.Ser462ArgfsTer17
NM_001308134.1:c.1463_1464insA	NP_001295063.1:p.Ser488ArgfsTer17
NM_020937.2:c.1463_1464insA , LRG_502t1:c.1463_1464insA	NP_065988.1:p.Ser488ArgfsTer17
NM_020937.3:c.1463_1464insA	NP_065988.1:p.Ser488ArgfsTer17
XM_011537034.1:c.1463_1464insA	XP_011535336.1:p.Ser488ArgfsTer17
XM_011537035.1:c.1385_1386insA	XP_011535337.1:p.Ser462ArgfsTer17
XM_011537036.1:c.1463_1464insA	XP_011535338.1:p.Ser488ArgfsTer17
XM_011537034.2:c.1463_1464insA	XP_011535336.1:p.Ser488ArgfsTer17
XM_011537035.3:c.1385_1386insA	XP_011535337.1:p.Ser462ArgfsTer17
XM_017021523.1:c.1463_1464insA	XP_016877012.1:p.Ser488ArgfsTer17
XM_017021524.2:c.500_501insA	XP_016877013.1:p.Ser167ArgfsTer17
XM_017021525.2:c.278_279insA	XP_016877014.1:p.Ser93ArgfsTer17
XM_017021526.2:c.278_279insA	XP_016877015.1:p.Ser93ArgfsTer17
XM_017021527.1:c.278_279insA	XP_016877016.1:p.Ser93ArgfsTer17
XR_001750470.1:n.1555_1556insA
XR_001750471.2:n.1555_1556insA
XR_001750472.1:n.1555_1556insA
NM_020937.4:c.1463_1464insA MANE Select	NP_065988.1:p.Ser488ArgfsTer17
NM_001308133.2:c.1385_1386insA	NP_001295062.1:p.Ser462ArgfsTer17
NM_001308134.2:c.1463_1464insA	NP_001295063.1:p.Ser488ArgfsTer17