Canonical Allele Identifier: CA2629873164

Gene: FAH

Linked Data

• gnomAD v4: 15-80153163-CGCGGGGAGGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGGAATGGAGTGGAATGAGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153169_80153236del , CM000677.2:g.80153169_80153236del	GRCh38
NC_000015.9:g.80445511_80445578del , CM000677.1:g.80445511_80445578del	GRCh37
NC_000015.8:g.78232566_78232633del	NCBI36
NG_012833.1:g.5171_5238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.81+34_81+101del	ENSP00000507680.1:n.81+34_81+101del
ENST00000682012.1:n.156+34_156+101del
ENST00000684363.1:c.81+34_81+101del	ENSP00000507314.1:n.81+34_81+101del
ENST00000684569.1:n.126+34_126+101del
ENST00000561421.6:c.81+34_81+101del MANE Select	ENSP00000453347.2:n.81+34_81+101del
ENST00000261755.9:c.81+34_81+101del	ENSP00000261755.5:n.81+34_81+101del
ENST00000407106.5:c.81+34_81+101del	ENSP00000385080.1:n.81+34_81+101del
ENST00000537726.5:n.163+34_163+101del
ENST00000558022.5:c.81+34_81+101del	ENSP00000453152.1:n.81+34_81+101del
ENST00000558767.5:n.342+34_342+101del
ENST00000561369.1:n.161+34_161+101del
ENST00000561421.5:c.81+34_81+101del	ENSP00000453347.1:n.81+34_81+101del
NM_000137.2:c.81+34_81+101del	NP_000128.1:n.81+34_81+101del
XM_024449872.1:c.81+34_81+101del	XP_024305640.1:n.81+34_81+101del
NM_000137.4:c.81+34_81+101del MANE Select	NP_000128.1:n.81+34_81+101del
NM_001374377.1:c.81+34_81+101del	NP_001361306.1:n.81+34_81+101del
NM_001374380.1:c.81+34_81+101del	NP_001361309.1:n.81+34_81+101del