Canonical Allele Identifier: CA645586825

Gene: FAH

Linked Data

• COSMIC: COSM4518002

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168087_80168088delinsTT , CM000677.2:g.80168087_80168088delinsTT	GRCh38
NC_000015.9:g.80460429_80460430delinsTT , CM000677.1:g.80460429_80460430delinsTT	GRCh37
NC_000015.8:g.78247484_78247485delinsTT	NCBI36
NG_012833.1:g.20089_20090delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.566_567delinsTT
ENST00000684569.1:n.536_537delinsTT
ENST00000561421.6:c.491_492delinsTT MANE Select	ENSP00000453347.2:p.Ser164Phe
ENST00000646551.1:n.2118_2119delinsTT
ENST00000261755.9:c.491_492delinsTT	ENSP00000261755.5:p.Ser164Phe
ENST00000407106.5:c.491_492delinsTT	ENSP00000385080.1:p.Ser164Phe
ENST00000539156.5:c.281_282delinsTT	ENSP00000454271.1:p.Ser94Phe
ENST00000558514.1:n.37_38delinsTT
ENST00000558627.1:n.419_420delinsTT
ENST00000561421.5:c.491_492delinsTT	ENSP00000453347.1:p.Ser164Phe
NM_000137.2:c.491_492delinsTT	NP_000128.1:p.Ser164Phe
XM_024449872.1:c.491_492delinsTT	XP_024305640.1:p.Ser164Phe
NM_000137.4:c.491_492delinsTT MANE Select	NP_000128.1:p.Ser164Phe
NM_001374377.1:c.491_492delinsTT	NP_001361306.1:p.Ser164Phe
NM_001374380.1:c.491_492delinsTT	NP_001361309.1:p.Ser164Phe