Canonical Allele Identifier: CA2629873248

Gene: FAH

Linked Data

• gnomAD v4: 15-80153215-A-AGTGGAGTGGAGTGGAGTGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153215_80153216insGTGGAGTGGAGTGGAGTGGAG , CM000677.2:g.80153215_80153216insGTGGAGTGGAGTGGAGTGGAG	GRCh38
NC_000015.9:g.80445557_80445558insGTGGAGTGGAGTGGAGTGGAG , CM000677.1:g.80445557_80445558insGTGGAGTGGAGTGGAGTGGAG	GRCh37
NC_000015.8:g.78232612_78232613insGTGGAGTGGAGTGGAGTGGAG	NCBI36
NG_012833.1:g.5217_5218insGTGGAGTGGAGTGGAGTGGAG

Transcript Alleles

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