Canonical Allele Identifier: CA2575809710

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162379_80162383del , CM000677.2:g.80162379_80162383del	GRCh38
NC_000015.9:g.80454721_80454725del , CM000677.1:g.80454721_80454725del	GRCh37
NC_000015.8:g.78241776_78241780del	NCBI36
NG_012833.1:g.14381_14385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*15_*19del	ENSP00000507680.1:n.*15_*19del
ENST00000682012.1:n.530+43_530+47del
ENST00000683593.1:n.2161_2165del
ENST00000684363.1:c.365-13_365-9del	ENSP00000507314.1:n.365-13_365-9del
ENST00000684569.1:n.500+43_500+47del
ENST00000561421.6:c.455+43_455+47del MANE Select	ENSP00000453347.2:n.455+43_455+47del
ENST00000646551.1:n.1942+43_1942+47del
ENST00000261755.9:c.455+43_455+47del	ENSP00000261755.5:n.455+43_455+47del
ENST00000407106.5:c.455+43_455+47del	ENSP00000385080.1:n.455+43_455+47del
ENST00000537726.5:n.644_648del
ENST00000539156.5:c.245+43_245+47del	ENSP00000454271.1:n.245+43_245+47del
ENST00000558022.5:c.455+43_455+47del	ENSP00000453152.1:n.455+43_455+47del
ENST00000558627.1:n.383+43_383+47del
ENST00000558767.5:n.759_763del
ENST00000561369.1:n.642_646del
ENST00000561421.5:c.455+43_455+47del	ENSP00000453347.1:n.455+43_455+47del
NM_000137.2:c.455+43_455+47del	NP_000128.1:n.455+43_455+47del
XM_024449872.1:c.455+43_455+47del	XP_024305640.1:n.455+43_455+47del
NM_000137.4:c.455+43_455+47del MANE Select	NP_000128.1:n.455+43_455+47del
NM_001374377.1:c.455+43_455+47del	NP_001361306.1:n.455+43_455+47del
NM_001374380.1:c.455+43_455+47del	NP_001361309.1:n.455+43_455+47del