Canonical Allele Identifier: CA2629878644

Gene: FAH

Linked Data

• gnomAD v4: 15-80162607-T-TAGGCGTGGTGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162607_80162608insAGGCGTGGTGAG , CM000677.2:g.80162607_80162608insAGGCGTGGTGAG	GRCh38
NC_000015.9:g.80454949_80454950insAGGCGTGGTGAG , CM000677.1:g.80454949_80454950insAGGCGTGGTGAG	GRCh37
NC_000015.8:g.78242004_78242005insAGGCGTGGTGAG	NCBI36
NG_012833.1:g.14609_14610insAGGCGTGGTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*243_*244insAGGCGTGGTGAG	ENSP00000507680.1:n.*243_*244insAGGCGTGGTGAG
ENST00000682012.1:n.530+271_530+272insAGGCGTGGTGAG
ENST00000683593.1:n.2389_2390insAGGCGTGGTGAG
ENST00000684363.1:c.580_581insAGGCGTGGTGAG	ENSP00000507314.1:n.580_581insAGGCGTGGTGAG
ENST00000684569.1:n.500+271_500+272insAGGCGTGGTGAG
ENST00000561421.6:c.455+271_455+272insAGGCGTGGTGAG MANE Select	ENSP00000453347.2:n.455+271_455+272insAGGCGTGGTGAG
ENST00000646551.1:n.1942+271_1942+272insAGGCGTGGTGAG
ENST00000261755.9:c.455+271_455+272insAGGCGTGGTGAG	ENSP00000261755.5:n.455+271_455+272insAGGCGTGGTGAG
ENST00000407106.5:c.455+271_455+272insAGGCGTGGTGAG	ENSP00000385080.1:n.455+271_455+272insAGGCGTGGTGAG
ENST00000537726.5:n.872_873insAGGCGTGGTGAG
ENST00000539156.5:c.245+271_245+272insAGGCGTGGTGAG	ENSP00000454271.1:n.245+271_245+272insAGGCGTGGTGAG
ENST00000558022.5:c.455+271_455+272insAGGCGTGGTGAG	ENSP00000453152.1:n.455+271_455+272insAGGCGTGGTGAG
ENST00000558627.1:n.383+271_383+272insAGGCGTGGTGAG
ENST00000558767.5:n.987_988insAGGCGTGGTGAG
ENST00000561421.5:c.455+271_455+272insAGGCGTGGTGAG	ENSP00000453347.1:n.455+271_455+272insAGGCGTGGTGAG
NM_000137.2:c.455+271_455+272insAGGCGTGGTGAG	NP_000128.1:n.455+271_455+272insAGGCGTGGTGAG
XM_024449872.1:c.455+271_455+272insAGGCGTGGTGAG	XP_024305640.1:n.455+271_455+272insAGGCGTGGTGAG
NM_000137.4:c.455+271_455+272insAGGCGTGGTGAG MANE Select	NP_000128.1:n.455+271_455+272insAGGCGTGGTGAG
NM_001374377.1:c.455+271_455+272insAGGCGTGGTGAG	NP_001361306.1:n.455+271_455+272insAGGCGTGGTGAG
NM_001374380.1:c.455+271_455+272insAGGCGTGGTGAG	NP_001361309.1:n.455+271_455+272insAGGCGTGGTGAG