Canonical Allele Identifier: CA2553714243

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511770_241511771insGAAC , CM000663.2:g.241511770_241511771insGAAC	GRCh38
NC_000001.10:g.241675070_241675071insGAAC , CM000663.1:g.241675070_241675071insGAAC	GRCh37
NC_000001.9:g.239741693_239741694insGAAC	NCBI36
NG_012338.1:g.12984_12985insGTTC , LRG_504:g.12984_12985insGTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+196_1058+197insGTTC
ENST00000682162.1:c.584+196_584+197insGTTC	ENSP00000508203.1:n.584+196_584+197insGTTC
ENST00000682567.1:n.632+196_632+197insGTTC
ENST00000683521.1:c.555+196_555+197insGTTC	ENSP00000506864.1:n.555+196_555+197insGTTC
ENST00000684483.1:c.555+196_555+197insGTTC	ENSP00000507894.1:n.555+196_555+197insGTTC
ENST00000366560.4:c.555+196_555+197insGTTC MANE Select	ENSP00000355518.4:n.555+196_555+197insGTTC
ENST00000366560.3:c.555+196_555+197insGTTC	ENSP00000355518.3:n.555+196_555+197insGTTC
NM_000143.3:c.555+196_555+197insGTTC , LRG_504t1:c.555+196_555+197insGTTC	NP_000134.2:n.555+196_555+197insGTTC
XM_011544132.1:c.327+196_327+197insGTTC	XP_011542434.1:n.327+196_327+197insGTTC
XM_011544132.2:c.327+196_327+197insGTTC	XP_011542434.1:n.327+196_327+197insGTTC
NM_000143.4:c.555+196_555+197insGTTC MANE Select	NP_000134.2:n.555+196_555+197insGTTC