Canonical Allele Identifier: CA2190332803

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159896_80159897delinsTA , CM000677.2:g.80159896_80159897delinsTA	GRCh38
NC_000015.9:g.80452238_80452239delinsTA , CM000677.1:g.80452238_80452239delinsTA	GRCh37
NC_000015.8:g.78239293_78239294delinsTA	NCBI36
NG_012833.1:g.11898_11899delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.314+19_314+20delinsTA	ENSP00000507680.1:n.314+19_314+20delinsTA
ENST00000682012.1:n.389+19_389+20delinsTA
ENST00000683593.1:n.191+19_191+20delinsTA
ENST00000684363.1:c.314+19_314+20delinsTA	ENSP00000507314.1:n.314+19_314+20delinsTA
ENST00000684569.1:n.359+19_359+20delinsTA
ENST00000561421.6:c.314+19_314+20delinsTA MANE Select	ENSP00000453347.2:n.314+19_314+20delinsTA
ENST00000646551.1:n.1801+19_1801+20delinsTA
ENST00000261755.9:c.314+19_314+20delinsTA	ENSP00000261755.5:n.314+19_314+20delinsTA
ENST00000407106.5:c.314+19_314+20delinsTA	ENSP00000385080.1:n.314+19_314+20delinsTA
ENST00000537726.5:n.396+19_396+20delinsTA
ENST00000539156.5:c.104+19_104+20delinsTA	ENSP00000454271.1:n.104+19_104+20delinsTA
ENST00000558022.5:c.314+19_314+20delinsTA	ENSP00000453152.1:n.314+19_314+20delinsTA
ENST00000558767.5:n.575+19_575+20delinsTA
ENST00000561369.1:n.394+19_394+20delinsTA
ENST00000561421.5:c.314+19_314+20delinsTA	ENSP00000453347.1:n.314+19_314+20delinsTA
NM_000137.2:c.314+19_314+20delinsTA	NP_000128.1:n.314+19_314+20delinsTA
XM_024449872.1:c.314+19_314+20delinsTA	XP_024305640.1:n.314+19_314+20delinsTA
NM_000137.4:c.314+19_314+20delinsTA MANE Select	NP_000128.1:n.314+19_314+20delinsTA
NM_001374377.1:c.314+19_314+20delinsTA	NP_001361306.1:n.314+19_314+20delinsTA
NM_001374380.1:c.314+19_314+20delinsTA	NP_001361309.1:n.314+19_314+20delinsTA