Canonical Allele Identifier: CA1229581911

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511734_241511736delinsTAG , CM000663.2:g.241511734_241511736delinsTAG	GRCh38
NC_000001.10:g.241675034_241675036delinsTAG , CM000663.1:g.241675034_241675036delinsTAG	GRCh37
NC_000001.9:g.239741657_239741659delinsTAG	NCBI36
NG_012338.1:g.13019_13021delinsCTA , LRG_504:g.13019_13021delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+231_1058+233delinsCTA
ENST00000682162.1:c.584+231_584+233delinsCTA	ENSP00000508203.1:n.584+231_584+233delinsCTA
ENST00000682567.1:n.632+231_632+233delinsCTA
ENST00000683521.1:c.555+231_555+233delinsCTA	ENSP00000506864.1:n.555+231_555+233delinsCTA
ENST00000684483.1:c.555+231_555+233delinsCTA	ENSP00000507894.1:n.555+231_555+233delinsCTA
ENST00000366560.4:c.555+231_555+233delinsCTA MANE Select	ENSP00000355518.4:n.555+231_555+233delinsCTA
ENST00000366560.3:c.555+231_555+233delinsCTA	ENSP00000355518.3:n.555+231_555+233delinsCTA
NM_000143.3:c.555+231_555+233delinsCTA , LRG_504t1:c.555+231_555+233delinsCTA	NP_000134.2:n.555+231_555+233delinsCTA
XM_011544132.1:c.327+231_327+233delinsCTA	XP_011542434.1:n.327+231_327+233delinsCTA
XM_011544132.2:c.327+231_327+233delinsCTA	XP_011542434.1:n.327+231_327+233delinsCTA
NM_000143.4:c.555+231_555+233delinsCTA MANE Select	NP_000134.2:n.555+231_555+233delinsCTA