Canonical Allele Identifier: CA2190333921

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162339_80162344delinsATGAAC , CM000677.2:g.80162339_80162344delinsATGAAC	GRCh38
NC_000015.9:g.80454681_80454686delinsATGAAC , CM000677.1:g.80454681_80454686delinsATGAAC	GRCh37
NC_000015.8:g.78241736_78241741delinsATGAAC	NCBI36
NG_012833.1:g.14341_14346delinsATGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.458_463delinsATGAAC	ENSP00000507680.1:p.Tyr153=
ENST00000682012.1:n.530+3_530+8delinsATGAAC
ENST00000683593.1:n.2121_2126delinsATGAAC
ENST00000684363.1:c.365-53_365-48delinsATGAAC	ENSP00000507314.1:n.365-53_365-48delinsATGAAC
ENST00000684569.1:n.500+3_500+8delinsATGAAC
ENST00000561421.6:c.455+3_455+8delinsATGAAC MANE Select	ENSP00000453347.2:n.455+3_455+8delinsATGAAC
ENST00000646551.1:n.1942+3_1942+8delinsATGAAC
ENST00000261755.9:c.455+3_455+8delinsATGAAC	ENSP00000261755.5:n.455+3_455+8delinsATGAAC
ENST00000407106.5:c.455+3_455+8delinsATGAAC	ENSP00000385080.1:n.455+3_455+8delinsATGAAC
ENST00000537726.5:n.604_609delinsATGAAC
ENST00000539156.5:c.245+3_245+8delinsATGAAC	ENSP00000454271.1:n.245+3_245+8delinsATGAAC
ENST00000558022.5:c.455+3_455+8delinsATGAAC	ENSP00000453152.1:n.455+3_455+8delinsATGAAC
ENST00000558627.1:n.383+3_383+8delinsATGAAC
ENST00000558767.5:n.719_724delinsATGAAC
ENST00000561369.1:n.602_607delinsATGAAC
ENST00000561421.5:c.455+3_455+8delinsATGAAC	ENSP00000453347.1:n.455+3_455+8delinsATGAAC
NM_000137.2:c.455+3_455+8delinsATGAAC	NP_000128.1:n.455+3_455+8delinsATGAAC
XM_024449872.1:c.455+3_455+8delinsATGAAC	XP_024305640.1:n.455+3_455+8delinsATGAAC
NM_000137.4:c.455+3_455+8delinsATGAAC MANE Select	NP_000128.1:n.455+3_455+8delinsATGAAC
NM_001374377.1:c.455+3_455+8delinsATGAAC	NP_001361306.1:n.455+3_455+8delinsATGAAC
NM_001374380.1:c.455+3_455+8delinsATGAAC	NP_001361309.1:n.455+3_455+8delinsATGAAC