Canonical Allele Identifier: CA1229584150

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517332_241517333delinsCA , CM000663.2:g.241517332_241517333delinsCA	GRCh38
NC_000001.10:g.241680632_241680633delinsCA , CM000663.1:g.241680632_241680633delinsCA	GRCh37
NC_000001.9:g.239747255_239747256delinsCA	NCBI36
NG_012338.1:g.7422_7423delinsTG , LRG_504:g.7422_7423delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.636-17_636-16delinsTG
ENST00000682162.1:c.162-17_162-16delinsTG	ENSP00000508203.1:n.162-17_162-16delinsTG
ENST00000682567.1:n.210-17_210-16delinsTG
ENST00000683521.1:c.133-17_133-16delinsTG	ENSP00000506864.1:n.133-17_133-16delinsTG
ENST00000684483.1:c.133-17_133-16delinsTG	ENSP00000507894.1:n.133-17_133-16delinsTG
ENST00000366560.4:c.133-17_133-16delinsTG MANE Select	ENSP00000355518.4:n.133-17_133-16delinsTG
ENST00000366560.3:c.133-17_133-16delinsTG	ENSP00000355518.3:n.133-17_133-16delinsTG
ENST00000493477.1:n.246-17_246-16delinsTG
NM_000143.3:c.133-17_133-16delinsTG , LRG_504t1:c.133-17_133-16delinsTG	NP_000134.2:n.133-17_133-16delinsTG
XM_011544132.1:c.-96-17_-96-16delinsTG	XP_011542434.1:n.-96-17_-96-16delinsTG
XM_011544132.2:c.-96-17_-96-16delinsTG	XP_011542434.1:n.-96-17_-96-16delinsTG
NM_000143.4:c.133-17_133-16delinsTG MANE Select	NP_000134.2:n.133-17_133-16delinsTG