Canonical Allele Identifier: CA2190336753

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168509_80168511delinsTCA , CM000677.2:g.80168509_80168511delinsTCA	GRCh38
NC_000015.9:g.80460851_80460853delinsTCA , CM000677.1:g.80460851_80460853delinsTCA	GRCh37
NC_000015.8:g.78247906_78247908delinsTCA	NCBI36
NG_012833.1:g.20511_20513delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.795+193_795+195delinsTCA
ENST00000684569.1:n.651+193_651+195delinsTCA
ENST00000561421.6:c.606+193_606+195delinsTCA MANE Select	ENSP00000453347.2:n.606+193_606+195delinsTCA
ENST00000646551.1:n.2233+193_2233+195delinsTCA
ENST00000261755.9:c.606+193_606+195delinsTCA	ENSP00000261755.5:n.606+193_606+195delinsTCA
ENST00000407106.5:c.606+193_606+195delinsTCA	ENSP00000385080.1:n.606+193_606+195delinsTCA
ENST00000539156.5:c.396+193_396+195delinsTCA	ENSP00000454271.1:n.396+193_396+195delinsTCA
ENST00000558627.1:n.534+193_534+195delinsTCA
ENST00000561421.5:c.606+193_606+195delinsTCA	ENSP00000453347.1:n.606+193_606+195delinsTCA
NM_000137.2:c.606+193_606+195delinsTCA	NP_000128.1:n.606+193_606+195delinsTCA
XM_024449872.1:c.606+193_606+195delinsTCA	XP_024305640.1:n.606+193_606+195delinsTCA
NM_000137.4:c.606+193_606+195delinsTCA MANE Select	NP_000128.1:n.606+193_606+195delinsTCA
NM_001374377.1:c.606+193_606+195delinsTCA	NP_001361306.1:n.606+193_606+195delinsTCA
NM_001374380.1:c.606+193_606+195delinsTCA	NP_001361309.1:n.606+193_606+195delinsTCA