Canonical Allele Identifier: CA2580090062

Gene: FAH

Linked Data

• ClinVar Variation Id: 1928518
• ClinVar RCV Id: RCV002635009
• gnomAD v4: 15-80153121-T-TCGACCAGAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153126_80153135dup , CM000677.2:g.80153126_80153135dup	GRCh38
NC_000015.9:g.80445468_80445477dup , CM000677.1:g.80445468_80445477dup	GRCh37
NC_000015.8:g.78232523_78232532dup	NCBI36
NG_012833.1:g.5128_5137dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.72_81dup	ENSP00000507680.1:p.Pro28GlnfsTer?
ENST00000682012.1:n.147_156dup
ENST00000684363.1:c.72_81dup	ENSP00000507314.1:p.Pro28GlnfsTer?
ENST00000684569.1:n.117_126dup
ENST00000561421.6:c.72_81dup MANE Select	ENSP00000453347.2:p.Pro28GlnfsTer?
ENST00000261755.9:c.72_81dup	ENSP00000261755.5:p.Pro28GlnfsTer?
ENST00000407106.5:c.72_81dup	ENSP00000385080.1:p.Pro28GlnfsTer?
ENST00000537726.5:n.154_163dup
ENST00000558022.5:c.72_81dup	ENSP00000453152.1:p.Pro28GlnfsTer?
ENST00000558767.5:n.333_342dup
ENST00000561369.1:n.152_161dup
ENST00000561421.5:c.72_81dup	ENSP00000453347.1:p.Pro28GlnfsTer?
NM_000137.2:c.72_81dup	NP_000128.1:p.Pro28GlnfsTer?
XM_024449872.1:c.72_81dup	XP_024305640.1:p.Pro28GlnfsTer?
NM_000137.4:c.72_81dup MANE Select	NP_000128.1:p.Pro28GlnfsTer?
NM_001374377.1:c.72_81dup	NP_001361306.1:p.Pro28GlnfsTer?
NM_001374380.1:c.72_81dup	NP_001361309.1:p.Pro28GlnfsTer?