Canonical Allele Identifier: CA2190332738

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159781_80159782delinsTG , CM000677.2:g.80159781_80159782delinsTG	GRCh38
NC_000015.9:g.80452123_80452124delinsTG , CM000677.1:g.80452123_80452124delinsTG	GRCh37
NC_000015.8:g.78239178_78239179delinsTG	NCBI36
NG_012833.1:g.11783_11784delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.218_219delinsTG	ENSP00000507680.1:p.Leu73=
ENST00000682012.1:n.293_294delinsTG
ENST00000683593.1:n.95_96delinsTG
ENST00000684363.1:c.218_219delinsTG	ENSP00000507314.1:p.Leu73=
ENST00000684569.1:n.263_264delinsTG
ENST00000561421.6:c.218_219delinsTG MANE Select	ENSP00000453347.2:p.Leu73=
ENST00000646551.1:n.1705_1706delinsTG
ENST00000261755.9:c.218_219delinsTG	ENSP00000261755.5:p.Leu73=
ENST00000407106.5:c.218_219delinsTG	ENSP00000385080.1:p.Leu73=
ENST00000537726.5:n.300_301delinsTG
ENST00000539156.5:c.8_9delinsTG	ENSP00000454271.1:p.Leu3=
ENST00000558022.5:c.218_219delinsTG	ENSP00000453152.1:p.Leu73=
ENST00000558767.5:n.479_480delinsTG
ENST00000561369.1:n.298_299delinsTG
ENST00000561421.5:c.218_219delinsTG	ENSP00000453347.1:p.Leu73=
NM_000137.2:c.218_219delinsTG	NP_000128.1:p.Leu73=
XM_024449872.1:c.218_219delinsTG	XP_024305640.1:p.Leu73=
NM_000137.4:c.218_219delinsTG MANE Select	NP_000128.1:p.Leu73=
NM_001374377.1:c.218_219delinsTG	NP_001361306.1:p.Leu73=
NM_001374380.1:c.218_219delinsTG	NP_001361309.1:p.Leu73=