Canonical Allele Identifier: CA2544475781

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511775_241511776insCT , CM000663.2:g.241511775_241511776insCT	GRCh38
NC_000001.10:g.241675075_241675076insCT , CM000663.1:g.241675075_241675076insCT	GRCh37
NC_000001.9:g.239741698_239741699insCT	NCBI36
NG_012338.1:g.12979_12980insAG , LRG_504:g.12979_12980insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+191_1058+192insAG
ENST00000682162.1:c.584+191_584+192insAG	ENSP00000508203.1:n.584+191_584+192insAG
ENST00000682567.1:n.632+191_632+192insAG
ENST00000683521.1:c.555+191_555+192insAG	ENSP00000506864.1:n.555+191_555+192insAG
ENST00000684483.1:c.555+191_555+192insAG	ENSP00000507894.1:n.555+191_555+192insAG
ENST00000366560.4:c.555+191_555+192insAG MANE Select	ENSP00000355518.4:n.555+191_555+192insAG
ENST00000366560.3:c.555+191_555+192insAG	ENSP00000355518.3:n.555+191_555+192insAG
NM_000143.3:c.555+191_555+192insAG , LRG_504t1:c.555+191_555+192insAG	NP_000134.2:n.555+191_555+192insAG
XM_011544132.1:c.327+191_327+192insAG	XP_011542434.1:n.327+191_327+192insAG
XM_011544132.2:c.327+191_327+192insAG	XP_011542434.1:n.327+191_327+192insAG
NM_000143.4:c.555+191_555+192insAG MANE Select	NP_000134.2:n.555+191_555+192insAG