Canonical Allele Identifier: CA2190333965

Gene: FAH

Linked Data

• dbSNP Id: rs2041157355
• gnomAD v4: 15-80162419-GTTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162425_80162427del , CM000677.2:g.80162425_80162427del	GRCh38
NC_000015.9:g.80454767_80454769del , CM000677.1:g.80454767_80454769del	GRCh37
NC_000015.8:g.78241822_78241824del	NCBI36
NG_012833.1:g.14427_14429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*61_*63del	ENSP00000507680.1:n.*61_*63del
ENST00000682012.1:n.530+89_530+91del
ENST00000683593.1:n.2207_2209del
ENST00000684363.1:c.398_400del	ENSP00000507314.1:p.Ser133Ter
ENST00000684569.1:n.500+89_500+91del
ENST00000561421.6:c.455+89_455+91del MANE Select	ENSP00000453347.2:n.455+89_455+91del
ENST00000646551.1:n.1942+89_1942+91del
ENST00000261755.9:c.455+89_455+91del	ENSP00000261755.5:n.455+89_455+91del
ENST00000407106.5:c.455+89_455+91del	ENSP00000385080.1:n.455+89_455+91del
ENST00000537726.5:n.690_692del
ENST00000539156.5:c.245+89_245+91del	ENSP00000454271.1:n.245+89_245+91del
ENST00000558022.5:c.455+89_455+91del	ENSP00000453152.1:n.455+89_455+91del
ENST00000558627.1:n.383+89_383+91del
ENST00000558767.5:n.805_807del
ENST00000561369.1:n.688_690del
ENST00000561421.5:c.455+89_455+91del	ENSP00000453347.1:n.455+89_455+91del
NM_000137.2:c.455+89_455+91del	NP_000128.1:n.455+89_455+91del
XM_024449872.1:c.455+89_455+91del	XP_024305640.1:n.455+89_455+91del
NM_000137.4:c.455+89_455+91del MANE Select	NP_000128.1:n.455+89_455+91del
NM_001374377.1:c.455+89_455+91del	NP_001361306.1:n.455+89_455+91del
NM_001374380.1:c.455+89_455+91del	NP_001361309.1:n.455+89_455+91del