Canonical Allele Identifier: CA2190336543

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168143_80168169delinsGATGACTGTGAGTGACCGCAGCGTCCA , CM000677.2:g.80168143_80168169delinsGATGACTGTGAGTGACCGCAGCGTCCA	GRCh38
NC_000015.9:g.80460485_80460511delinsGATGACTGTGAGTGACCGCAGCGTCCA , CM000677.1:g.80460485_80460511delinsGATGACTGTGAGTGACCGCAGCGTCCA	GRCh37
NC_000015.8:g.78247540_78247566delinsGATGACTGTGAGTGACCGCAGCGTCCA	NCBI36
NG_012833.1:g.20145_20171delinsGATGACTGTGAGTGACCGCAGCGTCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.622_648delinsGATGACTGTGAGTGACCGCAGCGTCCA
ENST00000684569.1:n.592_598+20delinsGATGACTGTGAGTGACCGCAGCGTCCA
ENST00000561421.6:c.547_553+20delinsGATGACTGTGAGTGACCGCAGCGTCCA
ENST00000646551.1:n.2174_2180+20delinsGATGACTGTGAGTGACCGCAGCGTCCA
ENST00000261755.9:c.547_553+20delinsGATGACTGTGAGTGACCGCAGCGTCCA
ENST00000407106.5:c.547_553+20delinsGATGACTGTGAGTGACCGCAGCGTCCA
ENST00000539156.5:c.337_343+20delinsGATGACTGTGAGTGACCGCAGCGTCCA
ENST00000558514.1:n.93_99+20delinsGATGACTGTGAGTGACCGCAGCGTCCA
ENST00000558627.1:n.475_481+20delinsGATGACTGTGAGTGACCGCAGCGTCCA
ENST00000561421.5:c.547_553+20delinsGATGACTGTGAGTGACCGCAGCGTCCA
NM_000137.2:c.547_553+20delinsGATGACTGTGAGTGACCGCAGCGTCCA
XM_024449872.1:c.547_553+20delinsGATGACTGTGAGTGACCGCAGCGTCCA
NM_000137.4:c.547_553+20delinsGATGACTGTGAGTGACCGCAGCGTCCA
NM_001374377.1:c.547_553+20delinsGATGACTGTGAGTGACCGCAGCGTCCA
NM_001374380.1:c.547_553+20delinsGATGACTGTGAGTGACCGCAGCGTCCA