Canonical Allele Identifier: CA2190336765

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168558_80168559delinsAG , CM000677.2:g.80168558_80168559delinsAG	GRCh38
NC_000015.9:g.80460900_80460901delinsAG , CM000677.1:g.80460900_80460901delinsAG	GRCh37
NC_000015.8:g.78247955_78247956delinsAG	NCBI36
NG_012833.1:g.20560_20561delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.795+242_795+243delinsAG
ENST00000684569.1:n.651+242_651+243delinsAG
ENST00000561421.6:c.606+242_606+243delinsAG MANE Select	ENSP00000453347.2:n.606+242_606+243delinsAG
ENST00000646551.1:n.2233+242_2233+243delinsAG
ENST00000261755.9:c.606+242_606+243delinsAG	ENSP00000261755.5:n.606+242_606+243delinsAG
ENST00000407106.5:c.606+242_606+243delinsAG	ENSP00000385080.1:n.606+242_606+243delinsAG
ENST00000539156.5:c.396+242_396+243delinsAG	ENSP00000454271.1:n.396+242_396+243delinsAG
ENST00000558627.1:n.534+242_534+243delinsAG
ENST00000561421.5:c.606+242_606+243delinsAG	ENSP00000453347.1:n.606+242_606+243delinsAG
NM_000137.2:c.606+242_606+243delinsAG	NP_000128.1:n.606+242_606+243delinsAG
XM_024449872.1:c.606+242_606+243delinsAG	XP_024305640.1:n.606+242_606+243delinsAG
NM_000137.4:c.606+242_606+243delinsAG MANE Select	NP_000128.1:n.606+242_606+243delinsAG
NM_001374377.1:c.606+242_606+243delinsAG	NP_001361306.1:n.606+242_606+243delinsAG
NM_001374380.1:c.606+242_606+243delinsAG	NP_001361309.1:n.606+242_606+243delinsAG