Canonical Allele Identifier: CA1229584111

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517244_241517247delinsCATA , CM000663.2:g.241517244_241517247delinsCATA	GRCh38
NC_000001.10:g.241680544_241680547delinsCATA , CM000663.1:g.241680544_241680547delinsCATA	GRCh37
NC_000001.9:g.239747167_239747170delinsCATA	NCBI36
NG_012338.1:g.7508_7511delinsTATG , LRG_504:g.7508_7511delinsTATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.705_708delinsTATG
ENST00000682162.1:c.231_234delinsTATG	ENSP00000508203.1:n.231_234delinsTATG
ENST00000682567.1:n.279_282delinsTATG
ENST00000683521.1:c.202_205delinsTATG	ENSP00000506864.1:p.Tyr68=
ENST00000684483.1:c.202_205delinsTATG	ENSP00000507894.1:p.Tyr68=
ENST00000366560.4:c.202_205delinsTATG MANE Select	ENSP00000355518.4:p.Tyr68=
ENST00000366560.3:c.202_205delinsTATG	ENSP00000355518.3:p.Tyr68=
ENST00000493477.1:n.315_318delinsTATG
NM_000143.3:c.202_205delinsTATG , LRG_504t1:c.202_205delinsTATG	NP_000134.2:p.Tyr68=
XM_011544132.1:c.-27_-24delinsTATG	XP_011542434.1:n.-27_-24delinsTATG
XM_011544132.2:c.-27_-24delinsTATG	XP_011542434.1:n.-27_-24delinsTATG
NM_000143.4:c.202_205delinsTATG MANE Select	NP_000134.2:p.Tyr68=