Canonical Allele Identifier: CA2190310152

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80179945_80179946delinsTC , CM000677.2:g.80179945_80179946delinsTC	GRCh38
NC_000015.9:g.80472287_80472288delinsTC , CM000677.1:g.80472287_80472288delinsTC	GRCh37
NC_000015.8:g.78259342_78259343delinsTC	NCBI36
NG_012833.1:g.31947_31948delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1050-179_1050-178delinsTC
ENST00000561421.6:c.961-179_961-178delinsTC MANE Select	ENSP00000453347.2:n.961-179_961-178delinsTC
ENST00000646551.1:n.2575-179_2575-178delinsTC
ENST00000261755.9:c.961-179_961-178delinsTC	ENSP00000261755.5:n.961-179_961-178delinsTC
ENST00000407106.5:c.961-179_961-178delinsTC	ENSP00000385080.1:n.961-179_961-178delinsTC
ENST00000539156.5:c.751-179_751-178delinsTC	ENSP00000454271.1:n.751-179_751-178delinsTC
ENST00000559217.1:n.178-179_178-178delinsTC
ENST00000561353.2:c.59-179_59-178delinsTC
ENST00000561421.5:c.961-179_961-178delinsTC	ENSP00000453347.1:n.961-179_961-178delinsTC
NM_000137.2:c.961-179_961-178delinsTC	NP_000128.1:n.961-179_961-178delinsTC
XM_024449872.1:c.961-179_961-178delinsTC	XP_024305640.1:n.961-179_961-178delinsTC
NM_000137.4:c.961-179_961-178delinsTC MANE Select	NP_000128.1:n.961-179_961-178delinsTC
NM_001374377.1:c.961-179_961-178delinsTC	NP_001361306.1:n.961-179_961-178delinsTC
NM_001374380.1:c.961-179_961-178delinsTC	NP_001361309.1:n.961-179_961-178delinsTC