Canonical Allele Identifier: CA2190336501

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168055_80168086delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT , CM000677.2:g.80168055_80168086delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT	GRCh38
NC_000015.9:g.80460397_80460428delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT , CM000677.1:g.80460397_80460428delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT	GRCh37
NC_000015.8:g.78247452_78247483delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT	NCBI36
NG_012833.1:g.20057_20088delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.534_565delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT
ENST00000684569.1:n.504_535delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT
ENST00000561421.6:c.459_490delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT MANE Select	ENSP00000453347.2:p.Leu153=
ENST00000646551.1:n.2086_2117delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT
ENST00000261755.9:c.459_490delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT	ENSP00000261755.5:p.Leu153=
ENST00000407106.5:c.459_490delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT	ENSP00000385080.1:p.Leu153=
ENST00000539156.5:c.249_280delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT	ENSP00000454271.1:p.Leu83=
ENST00000558514.1:n.5_36delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT
ENST00000558627.1:n.387_418delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT
ENST00000561421.5:c.459_490delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT	ENSP00000453347.1:p.Leu153=
NM_000137.2:c.459_490delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT	NP_000128.1:p.Leu153=
XM_024449872.1:c.459_490delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT	XP_024305640.1:p.Leu153=
NM_000137.4:c.459_490delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT MANE Select	NP_000128.1:p.Leu153=
NM_001374377.1:c.459_490delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT	NP_001361306.1:p.Leu153=
NM_001374380.1:c.459_490delinsGCACTTACCAGTGGGCTACCATGGCCGTGCCT	NP_001361309.1:p.Leu153=