Canonical Allele Identifier: CA2629875476

Gene: FAH

Linked Data

• gnomAD v4: 15-80168234-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168234_80168235insC , CM000677.2:g.80168234_80168235insC	GRCh38
NC_000015.9:g.80460576_80460577insC , CM000677.1:g.80460576_80460577insC	GRCh37
NC_000015.8:g.78247631_78247632insC	NCBI36
NG_012833.1:g.20236_20237insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.713_714insC
ENST00000684569.1:n.599-30_599-29insC
ENST00000561421.6:c.554-30_554-29insC MANE Select	ENSP00000453347.2:n.554-30_554-29insC
ENST00000646551.1:n.2181-30_2181-29insC
ENST00000261755.9:c.554-30_554-29insC	ENSP00000261755.5:n.554-30_554-29insC
ENST00000407106.5:c.554-30_554-29insC	ENSP00000385080.1:n.554-30_554-29insC
ENST00000539156.5:c.344-30_344-29insC	ENSP00000454271.1:n.344-30_344-29insC
ENST00000558514.1:n.100-30_100-29insC
ENST00000558627.1:n.482-30_482-29insC
ENST00000561421.5:c.554-30_554-29insC	ENSP00000453347.1:n.554-30_554-29insC
NM_000137.2:c.554-30_554-29insC	NP_000128.1:n.554-30_554-29insC
XM_024449872.1:c.554-30_554-29insC	XP_024305640.1:n.554-30_554-29insC
NM_000137.4:c.554-30_554-29insC MANE Select	NP_000128.1:n.554-30_554-29insC
NM_001374377.1:c.554-30_554-29insC	NP_001361306.1:n.554-30_554-29insC
NM_001374380.1:c.554-30_554-29insC	NP_001361309.1:n.554-30_554-29insC