Canonical Allele Identifier: CA2190336454

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80167961_80167963delinsACT , CM000677.2:g.80167961_80167963delinsACT	GRCh38
NC_000015.9:g.80460303_80460305delinsACT , CM000677.1:g.80460303_80460305delinsACT	GRCh37
NC_000015.8:g.78247358_78247360delinsACT	NCBI36
NG_012833.1:g.19963_19965delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.531-91_531-89delinsACT
ENST00000684569.1:n.501-91_501-89delinsACT
ENST00000561421.6:c.456-91_456-89delinsACT MANE Select	ENSP00000453347.2:n.456-91_456-89delinsACT
ENST00000646551.1:n.2083-91_2083-89delinsACT
ENST00000261755.9:c.456-91_456-89delinsACT	ENSP00000261755.5:n.456-91_456-89delinsACT
ENST00000407106.5:c.456-91_456-89delinsACT	ENSP00000385080.1:n.456-91_456-89delinsACT
ENST00000539156.5:c.246-91_246-89delinsACT	ENSP00000454271.1:n.246-91_246-89delinsACT
ENST00000558022.5:c.456-91_456-89delinsACT	ENSP00000453152.1:n.456-91_456-89delinsACT
ENST00000558627.1:n.384-91_384-89delinsACT
ENST00000561421.5:c.456-91_456-89delinsACT	ENSP00000453347.1:n.456-91_456-89delinsACT
NM_000137.2:c.456-91_456-89delinsACT	NP_000128.1:n.456-91_456-89delinsACT
XM_024449872.1:c.456-91_456-89delinsACT	XP_024305640.1:n.456-91_456-89delinsACT
NM_000137.4:c.456-91_456-89delinsACT MANE Select	NP_000128.1:n.456-91_456-89delinsACT
NM_001374377.1:c.456-91_456-89delinsACT	NP_001361306.1:n.456-91_456-89delinsACT
NM_001374380.1:c.456-91_456-89delinsACT	NP_001361309.1:n.456-91_456-89delinsACT