Canonical Allele Identifier: CA2190328359

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153185_80153215delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA , CM000677.2:g.80153185_80153215delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA	GRCh38
NC_000015.9:g.80445527_80445557delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA , CM000677.1:g.80445527_80445557delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA	GRCh37
NC_000015.8:g.78232582_78232612delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA	NCBI36
NG_012833.1:g.5187_5217delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA	ENSP00000507680.1:n.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGG...
ENST00000682012.1:n.156+50_156+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA
ENST00000684363.1:c.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA	ENSP00000507314.1:n.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGG...
ENST00000684569.1:n.126+50_126+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA
ENST00000561421.6:c.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA MANE Select	ENSP00000453347.2:n.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGG...
ENST00000261755.9:c.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA	ENSP00000261755.5:n.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGG...
ENST00000407106.5:c.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA	ENSP00000385080.1:n.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGG...
ENST00000537726.5:n.163+50_163+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA
ENST00000558022.5:c.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA	ENSP00000453152.1:n.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGG...
ENST00000558767.5:n.342+50_342+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA
ENST00000561369.1:n.161+50_161+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA
ENST00000561421.5:c.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA	ENSP00000453347.1:n.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGG...
NM_000137.2:c.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA	NP_000128.1:n.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGA...
XM_024449872.1:c.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA	XP_024305640.1:n.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGT...
NM_000137.4:c.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA MANE Select	NP_000128.1:n.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGA...
NM_001374377.1:c.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA	NP_001361306.1:n.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGT...
NM_001374380.1:c.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAA	NP_001361309.1:n.81+50_81+80delinsGTGGAGTGGAGTGGAGTGGAGTGGAGT...