Canonical Allele Identifier: CA2629878521

Gene: FAH

Linked Data

• gnomAD v4: 15-80162484-C-CTCAGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162487_80162492dup , CM000677.2:g.80162487_80162492dup	GRCh38
NC_000015.9:g.80454829_80454834dup , CM000677.1:g.80454829_80454834dup	GRCh37
NC_000015.8:g.78241884_78241889dup	NCBI36
NG_012833.1:g.14489_14494dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*123_*128dup	ENSP00000507680.1:n.*123_*128dup
ENST00000682012.1:n.530+151_530+156dup
ENST00000683593.1:n.2269_2274dup
ENST00000684363.1:c.460_465dup	ENSP00000507314.1:n.460_465dup
ENST00000684569.1:n.500+151_500+156dup
ENST00000561421.6:c.455+151_455+156dup MANE Select	ENSP00000453347.2:n.455+151_455+156dup
ENST00000646551.1:n.1942+151_1942+156dup
ENST00000261755.9:c.455+151_455+156dup	ENSP00000261755.5:n.455+151_455+156dup
ENST00000407106.5:c.455+151_455+156dup	ENSP00000385080.1:n.455+151_455+156dup
ENST00000537726.5:n.752_757dup
ENST00000539156.5:c.245+151_245+156dup	ENSP00000454271.1:n.245+151_245+156dup
ENST00000558022.5:c.455+151_455+156dup	ENSP00000453152.1:n.455+151_455+156dup
ENST00000558627.1:n.383+151_383+156dup
ENST00000558767.5:n.867_872dup
ENST00000561421.5:c.455+151_455+156dup	ENSP00000453347.1:n.455+151_455+156dup
NM_000137.2:c.455+151_455+156dup	NP_000128.1:n.455+151_455+156dup
XM_024449872.1:c.455+151_455+156dup	XP_024305640.1:n.455+151_455+156dup
NM_000137.4:c.455+151_455+156dup MANE Select	NP_000128.1:n.455+151_455+156dup
NM_001374377.1:c.455+151_455+156dup	NP_001361306.1:n.455+151_455+156dup
NM_001374380.1:c.455+151_455+156dup	NP_001361309.1:n.455+151_455+156dup