Canonical Allele Identifier: CA971894754

Gene: FAH

Linked Data

• gnomAD v3: 15-80153171-G-GGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGT
• gnomAD v4: 15-80153171-G-GGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153173_80153174insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG , CM000677.2:g.80153173_80153174insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG	GRCh38
NC_000015.9:g.80445515_80445516insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG , CM000677.1:g.80445515_80445516insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG	GRCh37
NC_000015.8:g.78232570_78232571insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG	NCBI36
NG_012833.1:g.5175_5176insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG	ENSP00000507680.1:n.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGA...
ENST00000682012.1:n.156+38_156+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG
ENST00000684363.1:c.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG	ENSP00000507314.1:n.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGA...
ENST00000684569.1:n.126+38_126+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG
ENST00000561421.6:c.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG MANE Select	ENSP00000453347.2:n.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGA...
ENST00000261755.9:c.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG	ENSP00000261755.5:n.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGA...
ENST00000407106.5:c.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG	ENSP00000385080.1:n.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGA...
ENST00000537726.5:n.163+38_163+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG
ENST00000558022.5:c.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG	ENSP00000453152.1:n.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGA...
ENST00000558767.5:n.342+38_342+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG
ENST00000561369.1:n.161+38_161+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG
ENST00000561421.5:c.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG	ENSP00000453347.1:n.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGA...
NM_000137.2:c.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG	NP_000128.1:n.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAG...
XM_024449872.1:c.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG	XP_024305640.1:n.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTG...
NM_000137.4:c.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG MANE Select	NP_000128.1:n.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAG...
NM_001374377.1:c.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG	NP_001361306.1:n.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTG...
NM_001374380.1:c.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGG	NP_001361309.1:n.81+38_81+39insGAGTGGAGTGGAGTGGAGTGGAGTGGAGTG...