Canonical Allele Identifier: CA2190332718

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159730_80159731delinsCT , CM000677.2:g.80159730_80159731delinsCT	GRCh38
NC_000015.9:g.80452072_80452073delinsCT , CM000677.1:g.80452072_80452073delinsCT	GRCh37
NC_000015.8:g.78239127_78239128delinsCT	NCBI36
NG_012833.1:g.11732_11733delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.193-26_193-25delinsCT	ENSP00000507680.1:n.193-26_193-25delinsCT
ENST00000682012.1:n.268-26_268-25delinsCT
ENST00000683593.1:n.70-26_70-25delinsCT
ENST00000684363.1:c.193-26_193-25delinsCT	ENSP00000507314.1:n.193-26_193-25delinsCT
ENST00000684569.1:n.238-26_238-25delinsCT
ENST00000561421.6:c.193-26_193-25delinsCT MANE Select	ENSP00000453347.2:n.193-26_193-25delinsCT
ENST00000646551.1:n.1680-26_1680-25delinsCT
ENST00000261755.9:c.193-26_193-25delinsCT	ENSP00000261755.5:n.193-26_193-25delinsCT
ENST00000407106.5:c.193-26_193-25delinsCT	ENSP00000385080.1:n.193-26_193-25delinsCT
ENST00000537726.5:n.275-26_275-25delinsCT
ENST00000539156.5:c.-18-26_-18-25delinsCT	ENSP00000454271.1:n.-18-26_-18-25delinsCT
ENST00000558022.5:c.193-26_193-25delinsCT	ENSP00000453152.1:n.193-26_193-25delinsCT
ENST00000558767.5:n.454-26_454-25delinsCT
ENST00000561369.1:n.273-26_273-25delinsCT
ENST00000561421.5:c.193-26_193-25delinsCT	ENSP00000453347.1:n.193-26_193-25delinsCT
NM_000137.2:c.193-26_193-25delinsCT	NP_000128.1:n.193-26_193-25delinsCT
XM_024449872.1:c.193-26_193-25delinsCT	XP_024305640.1:n.193-26_193-25delinsCT
NM_000137.4:c.193-26_193-25delinsCT MANE Select	NP_000128.1:n.193-26_193-25delinsCT
NM_001374377.1:c.193-26_193-25delinsCT	NP_001361306.1:n.193-26_193-25delinsCT
NM_001374380.1:c.193-26_193-25delinsCT	NP_001361309.1:n.193-26_193-25delinsCT