Canonical Allele Identifier: CA2190336545

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168148_80168150delinsCTG , CM000677.2:g.80168148_80168150delinsCTG	GRCh38
NC_000015.9:g.80460490_80460492delinsCTG , CM000677.1:g.80460490_80460492delinsCTG	GRCh37
NC_000015.8:g.78247545_78247547delinsCTG	NCBI36
NG_012833.1:g.20150_20152delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.627_629delinsCTG
ENST00000684569.1:n.597_598+1delinsCTG
ENST00000561421.6:c.552_553+1delinsCTG
ENST00000646551.1:n.2179_2180+1delinsCTG
ENST00000261755.9:c.552_553+1delinsCTG
ENST00000407106.5:c.552_553+1delinsCTG
ENST00000539156.5:c.342_343+1delinsCTG
ENST00000558514.1:n.98_99+1delinsCTG
ENST00000558627.1:n.480_481+1delinsCTG
ENST00000561421.5:c.552_553+1delinsCTG
NM_000137.2:c.552_553+1delinsCTG
XM_024449872.1:c.552_553+1delinsCTG
NM_000137.4:c.552_553+1delinsCTG
NM_001374377.1:c.552_553+1delinsCTG
NM_001374380.1:c.552_553+1delinsCTG