Canonical Allele Identifier: CA2190310093

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80179865_80179866delinsTG , CM000677.2:g.80179865_80179866delinsTG	GRCh38
NC_000015.9:g.80472207_80472208delinsTG , CM000677.1:g.80472207_80472208delinsTG	GRCh37
NC_000015.8:g.78259262_78259263delinsTG	NCBI36
NG_012833.1:g.31867_31868delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1050-259_1050-258delinsTG
ENST00000561421.6:c.961-259_961-258delinsTG MANE Select	ENSP00000453347.2:n.961-259_961-258delinsTG
ENST00000646551.1:n.2575-259_2575-258delinsTG
ENST00000261755.9:c.961-259_961-258delinsTG	ENSP00000261755.5:n.961-259_961-258delinsTG
ENST00000407106.5:c.961-259_961-258delinsTG	ENSP00000385080.1:n.961-259_961-258delinsTG
ENST00000539156.5:c.751-259_751-258delinsTG	ENSP00000454271.1:n.751-259_751-258delinsTG
ENST00000559217.1:n.178-259_178-258delinsTG
ENST00000561353.2:c.59-259_59-258delinsTG
ENST00000561421.5:c.961-259_961-258delinsTG	ENSP00000453347.1:n.961-259_961-258delinsTG
NM_000137.2:c.961-259_961-258delinsTG	NP_000128.1:n.961-259_961-258delinsTG
XM_024449872.1:c.961-259_961-258delinsTG	XP_024305640.1:n.961-259_961-258delinsTG
NM_000137.4:c.961-259_961-258delinsTG MANE Select	NP_000128.1:n.961-259_961-258delinsTG
NM_001374377.1:c.961-259_961-258delinsTG	NP_001361306.1:n.961-259_961-258delinsTG
NM_001374380.1:c.961-259_961-258delinsTG	NP_001361309.1:n.961-259_961-258delinsTG