Canonical Allele Identifier: CA1229578124

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502469_241502470delinsCA , CM000663.2:g.241502469_241502470delinsCA	GRCh38
NC_000001.10:g.241665769_241665770delinsCA , CM000663.1:g.241665769_241665770delinsCA	GRCh37
NC_000001.9:g.239732392_239732393delinsCA	NCBI36
NG_012338.1:g.22285_22286delinsTG , LRG_504:g.22285_22286delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1712_1713delinsTG
ENST00000682162.1:c.1238_1239delinsTG	ENSP00000508203.1:n.1238_1239delinsTG
ENST00000682567.1:n.2757_2758delinsTG
ENST00000683521.1:c.1209_1210delinsTG	ENSP00000506864.1:p.Phe403=
ENST00000684161.1:n.2424_2425delinsTG
ENST00000684483.1:c.*605_*606delinsTG	ENSP00000507894.1:n.*605_*606delinsTG
ENST00000366560.4:c.1209_1210delinsTG MANE Select	ENSP00000355518.4:p.Phe403=
ENST00000366560.3:c.1209_1210delinsTG	ENSP00000355518.3:p.Phe403=
NM_000143.3:c.1209_1210delinsTG , LRG_504t1:c.1209_1210delinsTG	NP_000134.2:p.Phe403=
XM_011544132.1:c.981_982delinsTG	XP_011542434.1:p.Phe327=
XM_011544132.2:c.981_982delinsTG	XP_011542434.1:p.Phe327=
NM_000143.4:c.1209_1210delinsTG MANE Select	NP_000134.2:p.Phe403=