Canonical Allele Identifier: CA1229580648

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508665_241508666delinsCA , CM000663.2:g.241508665_241508666delinsCA	GRCh38
NC_000001.10:g.241671965_241671966delinsCA , CM000663.1:g.241671965_241671966delinsCA	GRCh37
NC_000001.9:g.239738588_239738589delinsCA	NCBI36
NG_012338.1:g.16089_16090delinsTG , LRG_504:g.16089_16090delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1178_1179delinsTG
ENST00000682162.1:c.704_705delinsTG	ENSP00000508203.1:n.704_705delinsTG
ENST00000682567.1:n.752_753delinsTG
ENST00000683521.1:c.675_676delinsTG	ENSP00000506864.1:p.Phe225=
ENST00000684161.1:n.1890_1891delinsTG
ENST00000684483.1:c.*71_*72delinsTG	ENSP00000507894.1:n.*71_*72delinsTG
ENST00000366560.4:c.675_676delinsTG MANE Select	ENSP00000355518.4:p.Phe225=
ENST00000366560.3:c.675_676delinsTG	ENSP00000355518.3:p.Phe225=
NM_000143.3:c.675_676delinsTG , LRG_504t1:c.675_676delinsTG	NP_000134.2:p.Phe225=
XM_011544132.1:c.447_448delinsTG	XP_011542434.1:p.Phe149=
XM_011544132.2:c.447_448delinsTG	XP_011542434.1:p.Phe149=
NM_000143.4:c.675_676delinsTG MANE Select	NP_000134.2:p.Phe225=