Canonical Allele Identifier: CA2190317990

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80186138_80186139delinsCA , CM000677.2:g.80186138_80186139delinsCA	GRCh38
NC_000015.9:g.80478480_80478481delinsCA , CM000677.1:g.80478480_80478481delinsCA	GRCh37
NC_000015.8:g.78265535_78265536delinsCA	NCBI36
NG_012833.1:g.38140_38141delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1278_1279delinsCA
ENST00000561421.6:c.1189_1190delinsCA MANE Select	ENSP00000453347.2:p.Gln397=
ENST00000646551.1:n.2803_2804delinsCA
ENST00000261755.9:c.1189_1190delinsCA	ENSP00000261755.5:p.Gln397=
ENST00000407106.5:c.1189_1190delinsCA	ENSP00000385080.1:p.Gln397=
ENST00000539156.5:c.979_980delinsCA	ENSP00000454271.1:p.Gln327=
ENST00000559217.1:n.406_407delinsCA
ENST00000561421.5:c.1189_1190delinsCA	ENSP00000453347.1:p.Gln397=
NM_000137.2:c.1189_1190delinsCA	NP_000128.1:p.Gln397=
XM_024449872.1:c.1189_1190delinsCA	XP_024305640.1:p.Gln397=
NM_000137.4:c.1189_1190delinsCA MANE Select	NP_000128.1:p.Gln397=
NM_001374377.1:c.1189_1190delinsCA	NP_001361306.1:p.Gln397=
NM_001374380.1:c.1189_1190delinsCA	NP_001361309.1:p.Gln397=