Canonical Allele Identifier: CA2190310068

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80179830_80179832delinsGCC , CM000677.2:g.80179830_80179832delinsGCC	GRCh38
NC_000015.9:g.80472172_80472174delinsGCC , CM000677.1:g.80472172_80472174delinsGCC	GRCh37
NC_000015.8:g.78259227_78259229delinsGCC	NCBI36
NG_012833.1:g.31832_31834delinsGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1050-294_1050-292delinsGCC
ENST00000561421.6:c.961-294_961-292delinsGCC MANE Select	ENSP00000453347.2:n.961-294_961-292delinsGCC
ENST00000646551.1:n.2575-294_2575-292delinsGCC
ENST00000261755.9:c.961-294_961-292delinsGCC	ENSP00000261755.5:n.961-294_961-292delinsGCC
ENST00000407106.5:c.961-294_961-292delinsGCC	ENSP00000385080.1:n.961-294_961-292delinsGCC
ENST00000539156.5:c.751-294_751-292delinsGCC	ENSP00000454271.1:n.751-294_751-292delinsGCC
ENST00000559217.1:n.178-294_178-292delinsGCC
ENST00000561353.2:c.59-294_59-292delinsGCC
ENST00000561421.5:c.961-294_961-292delinsGCC	ENSP00000453347.1:n.961-294_961-292delinsGCC
NM_000137.2:c.961-294_961-292delinsGCC	NP_000128.1:n.961-294_961-292delinsGCC
XM_024449872.1:c.961-294_961-292delinsGCC	XP_024305640.1:n.961-294_961-292delinsGCC
NM_000137.4:c.961-294_961-292delinsGCC MANE Select	NP_000128.1:n.961-294_961-292delinsGCC
NM_001374377.1:c.961-294_961-292delinsGCC	NP_001361306.1:n.961-294_961-292delinsGCC
NM_001374380.1:c.961-294_961-292delinsGCC	NP_001361309.1:n.961-294_961-292delinsGCC