Canonical Allele Identifier: CA2190338342

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80172006_80172008delinsAAC , CM000677.2:g.80172006_80172008delinsAAC	GRCh38
NC_000015.9:g.80464348_80464350delinsAAC , CM000677.1:g.80464348_80464350delinsAAC	GRCh37
NC_000015.8:g.78251403_78251405delinsAAC	NCBI36
NG_012833.1:g.24008_24010delinsAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.796-1008_796-1006delinsAAC
ENST00000561421.6:c.607-143_607-141delinsAAC MANE Select	ENSP00000453347.2:n.607-143_607-141delinsAAC
ENST00000646551.1:n.2234-156_2234-154delinsAAC
ENST00000261755.9:c.607-143_607-141delinsAAC	ENSP00000261755.5:n.607-143_607-141delinsAAC
ENST00000407106.5:c.607-143_607-141delinsAAC	ENSP00000385080.1:n.607-143_607-141delinsAAC
ENST00000539156.5:c.397-143_397-141delinsAAC	ENSP00000454271.1:n.397-143_397-141delinsAAC
ENST00000558627.1:n.535-143_535-141delinsAAC
ENST00000561421.5:c.607-143_607-141delinsAAC	ENSP00000453347.1:n.607-143_607-141delinsAAC
NM_000137.2:c.607-143_607-141delinsAAC	NP_000128.1:n.607-143_607-141delinsAAC
XM_024449872.1:c.607-143_607-141delinsAAC	XP_024305640.1:n.607-143_607-141delinsAAC
NM_000137.4:c.607-143_607-141delinsAAC MANE Select	NP_000128.1:n.607-143_607-141delinsAAC
NM_001374377.1:c.607-143_607-141delinsAAC	NP_001361306.1:n.607-143_607-141delinsAAC
NM_001374380.1:c.607-143_607-141delinsAAC	NP_001361309.1:n.607-143_607-141delinsAAC