Canonical Allele Identifier: CA2190338397

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80172150_80172151delinsCT , CM000677.2:g.80172150_80172151delinsCT	GRCh38
NC_000015.9:g.80464492_80464493delinsCT , CM000677.1:g.80464492_80464493delinsCT	GRCh37
NC_000015.8:g.78251547_78251548delinsCT	NCBI36
NG_012833.1:g.24152_24153delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000682012.1:n.796-864_796-863delinsCT
ENST00000561421.6:c.608_609delinsCT MANE Select	ENSP00000453347.2:p.Ala203=
ENST00000646551.1:n.2234-12_2234-11delinsCT
ENST00000261755.9:c.608_609delinsCT	ENSP00000261755.5:p.Ala203=
ENST00000407106.5:c.608_609delinsCT	ENSP00000385080.1:p.Ala203=
ENST00000539156.5:c.398_399delinsCT	ENSP00000454271.1:p.Ala133=
ENST00000558627.1:n.536_537delinsCT
ENST00000561421.5:c.608_609delinsCT	ENSP00000453347.1:p.Ala203=
NM_000137.2:c.608_609delinsCT	NP_000128.1:p.Ala203=
XM_024449872.1:c.608_609delinsCT	XP_024305640.1:p.Ala203=
NM_000137.4:c.608_609delinsCT MANE Select	NP_000128.1:p.Ala203=
NM_001374377.1:c.608_609delinsCT	NP_001361306.1:p.Ala203=
NM_001374380.1:c.608_609delinsCT	NP_001361309.1:p.Ala203=