Canonical Allele Identifier: CA1229581955

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511830_241511834delinsGAAAT , CM000663.2:g.241511830_241511834delinsGAAAT	GRCh38
NC_000001.10:g.241675130_241675134delinsGAAAT , CM000663.1:g.241675130_241675134delinsGAAAT	GRCh37
NC_000001.9:g.239741753_239741757delinsGAAAT	NCBI36
NG_012338.1:g.12921_12925delinsATTTC , LRG_504:g.12921_12925delinsATTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+133_1058+137delinsATTTC
ENST00000682162.1:c.584+133_584+137delinsATTTC	ENSP00000508203.1:n.584+133_584+137delinsATTTC
ENST00000682567.1:n.632+133_632+137delinsATTTC
ENST00000683521.1:c.555+133_555+137delinsATTTC	ENSP00000506864.1:n.555+133_555+137delinsATTTC
ENST00000684483.1:c.555+133_555+137delinsATTTC	ENSP00000507894.1:n.555+133_555+137delinsATTTC
ENST00000366560.4:c.555+133_555+137delinsATTTC MANE Select	ENSP00000355518.4:n.555+133_555+137delinsATTTC
ENST00000366560.3:c.555+133_555+137delinsATTTC	ENSP00000355518.3:n.555+133_555+137delinsATTTC
NM_000143.3:c.555+133_555+137delinsATTTC , LRG_504t1:c.555+133_555+137delinsATTTC	NP_000134.2:n.555+133_555+137delinsATTTC
XM_011544132.1:c.327+133_327+137delinsATTTC	XP_011542434.1:n.327+133_327+137delinsATTTC
XM_011544132.2:c.327+133_327+137delinsATTTC	XP_011542434.1:n.327+133_327+137delinsATTTC
NM_000143.4:c.555+133_555+137delinsATTTC MANE Select	NP_000134.2:n.555+133_555+137delinsATTTC