Canonical Allele Identifier: CA2529504108

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502538_241502539insAA , CM000663.2:g.241502538_241502539insAA	GRCh38
NC_000001.10:g.241665838_241665839insAA , CM000663.1:g.241665838_241665839insAA	GRCh37
NC_000001.9:g.239732461_239732462insAA	NCBI36
NG_012338.1:g.22216_22217insTT , LRG_504:g.22216_22217insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1643_1644insTT
ENST00000682162.1:c.1169_1170insTT	ENSP00000508203.1:n.1169_1170insTT
ENST00000682567.1:n.2688_2689insTT
ENST00000683521.1:c.1140_1141insTT	ENSP00000506864.1:p.Thr381LeufsTer26
ENST00000684161.1:n.2355_2356insTT
ENST00000684483.1:c.*536_*537insTT	ENSP00000507894.1:n.*536_*537insTT
ENST00000366560.4:c.1140_1141insTT MANE Select	ENSP00000355518.4:p.Thr381LeufsTer26
ENST00000366560.3:c.1140_1141insTT	ENSP00000355518.3:p.Thr381LeufsTer26
NM_000143.3:c.1140_1141insTT , LRG_504t1:c.1140_1141insTT	NP_000134.2:p.Thr381LeufsTer26
XM_011544132.1:c.912_913insTT	XP_011542434.1:p.Thr305LeufsTer26
XM_011544132.2:c.912_913insTT	XP_011542434.1:p.Thr305LeufsTer26
NM_000143.4:c.1140_1141insTT MANE Select	NP_000134.2:p.Thr381LeufsTer26