Canonical Allele Identifier: CA1229581916

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511749_241511750delinsTA , CM000663.2:g.241511749_241511750delinsTA	GRCh38
NC_000001.10:g.241675049_241675050delinsTA , CM000663.1:g.241675049_241675050delinsTA	GRCh37
NC_000001.9:g.239741672_239741673delinsTA	NCBI36
NG_012338.1:g.13005_13006delinsTA , LRG_504:g.13005_13006delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+217_1058+218delinsTA
ENST00000682162.1:c.584+217_584+218delinsTA	ENSP00000508203.1:n.584+217_584+218delinsTA
ENST00000682567.1:n.632+217_632+218delinsTA
ENST00000683521.1:c.555+217_555+218delinsTA	ENSP00000506864.1:n.555+217_555+218delinsTA
ENST00000684483.1:c.555+217_555+218delinsTA	ENSP00000507894.1:n.555+217_555+218delinsTA
ENST00000366560.4:c.555+217_555+218delinsTA MANE Select	ENSP00000355518.4:n.555+217_555+218delinsTA
ENST00000366560.3:c.555+217_555+218delinsTA	ENSP00000355518.3:n.555+217_555+218delinsTA
NM_000143.3:c.555+217_555+218delinsTA , LRG_504t1:c.555+217_555+218delinsTA	NP_000134.2:n.555+217_555+218delinsTA
XM_011544132.1:c.327+217_327+218delinsTA	XP_011542434.1:n.327+217_327+218delinsTA
XM_011544132.2:c.327+217_327+218delinsTA	XP_011542434.1:n.327+217_327+218delinsTA
NM_000143.4:c.555+217_555+218delinsTA MANE Select	NP_000134.2:n.555+217_555+218delinsTA