Canonical Allele Identifier: CA971894967

Gene: FAH

Linked Data

• dbSNP Id: rs759366090
• gnomAD v3: 15-80153226-T-TGGAGTGGAGTG
• gnomAD v4: 15-80153226-T-TGGAGTGGAGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153227_80153228insGAGTGGAGTGG , CM000677.2:g.80153227_80153228insGAGTGGAGTGG	GRCh38
NC_000015.9:g.80445569_80445570insGAGTGGAGTGG , CM000677.1:g.80445569_80445570insGAGTGGAGTGG	GRCh37
NC_000015.8:g.78232624_78232625insGAGTGGAGTGG	NCBI36
NG_012833.1:g.5229_5230insGAGTGGAGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.81+92_81+93insGAGTGGAGTGG	ENSP00000507680.1:n.81+92_81+93insGAGTGGAGTGG
ENST00000682012.1:n.156+92_156+93insGAGTGGAGTGG
ENST00000684363.1:c.81+92_81+93insGAGTGGAGTGG	ENSP00000507314.1:n.81+92_81+93insGAGTGGAGTGG
ENST00000684569.1:n.126+92_126+93insGAGTGGAGTGG
ENST00000561421.6:c.81+92_81+93insGAGTGGAGTGG MANE Select	ENSP00000453347.2:n.81+92_81+93insGAGTGGAGTGG
ENST00000261755.9:c.81+92_81+93insGAGTGGAGTGG	ENSP00000261755.5:n.81+92_81+93insGAGTGGAGTGG
ENST00000407106.5:c.81+92_81+93insGAGTGGAGTGG	ENSP00000385080.1:n.81+92_81+93insGAGTGGAGTGG
ENST00000537726.5:n.163+92_163+93insGAGTGGAGTGG
ENST00000558022.5:c.81+92_81+93insGAGTGGAGTGG	ENSP00000453152.1:n.81+92_81+93insGAGTGGAGTGG
ENST00000558767.5:n.342+92_342+93insGAGTGGAGTGG
ENST00000561369.1:n.161+92_161+93insGAGTGGAGTGG
ENST00000561421.5:c.81+92_81+93insGAGTGGAGTGG	ENSP00000453347.1:n.81+92_81+93insGAGTGGAGTGG
NM_000137.2:c.81+92_81+93insGAGTGGAGTGG	NP_000128.1:n.81+92_81+93insGAGTGGAGTGG
XM_024449872.1:c.81+92_81+93insGAGTGGAGTGG	XP_024305640.1:n.81+92_81+93insGAGTGGAGTGG
NM_000137.4:c.81+92_81+93insGAGTGGAGTGG MANE Select	NP_000128.1:n.81+92_81+93insGAGTGGAGTGG
NM_001374377.1:c.81+92_81+93insGAGTGGAGTGG	NP_001361306.1:n.81+92_81+93insGAGTGGAGTGG
NM_001374380.1:c.81+92_81+93insGAGTGGAGTGG	NP_001361309.1:n.81+92_81+93insGAGTGGAGTGG