Canonical Allele Identifier: CA2629878576

Gene: FAH

Linked Data

• gnomAD v4: 15-80162536-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162538_80162539del , CM000677.2:g.80162538_80162539del	GRCh38
NC_000015.9:g.80454880_80454881del , CM000677.1:g.80454880_80454881del	GRCh37
NC_000015.8:g.78241935_78241936del	NCBI36
NG_012833.1:g.14540_14541del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*174_*175del	ENSP00000507680.1:n.*174_*175del
ENST00000682012.1:n.530+202_530+203del
ENST00000683593.1:n.2320_2321del
ENST00000684363.1:c.511_512del	ENSP00000507314.1:n.511_512del
ENST00000684569.1:n.500+202_500+203del
ENST00000561421.6:c.455+202_455+203del MANE Select	ENSP00000453347.2:n.455+202_455+203del
ENST00000646551.1:n.1942+202_1942+203del
ENST00000261755.9:c.455+202_455+203del	ENSP00000261755.5:n.455+202_455+203del
ENST00000407106.5:c.455+202_455+203del	ENSP00000385080.1:n.455+202_455+203del
ENST00000537726.5:n.803_804del
ENST00000539156.5:c.245+202_245+203del	ENSP00000454271.1:n.245+202_245+203del
ENST00000558022.5:c.455+202_455+203del	ENSP00000453152.1:n.455+202_455+203del
ENST00000558627.1:n.383+202_383+203del
ENST00000558767.5:n.918_919del
ENST00000561421.5:c.455+202_455+203del	ENSP00000453347.1:n.455+202_455+203del
NM_000137.2:c.455+202_455+203del	NP_000128.1:n.455+202_455+203del
XM_024449872.1:c.455+202_455+203del	XP_024305640.1:n.455+202_455+203del
NM_000137.4:c.455+202_455+203del MANE Select	NP_000128.1:n.455+202_455+203del
NM_001374377.1:c.455+202_455+203del	NP_001361306.1:n.455+202_455+203del
NM_001374380.1:c.455+202_455+203del	NP_001361309.1:n.455+202_455+203del