Canonical Allele Identifier: CA1229578773

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504044_241504046delinsGGC , CM000663.2:g.241504044_241504046delinsGGC	GRCh38
NC_000001.10:g.241667344_241667346delinsGGC , CM000663.1:g.241667344_241667346delinsGGC	GRCh37
NC_000001.9:g.239733967_239733969delinsGGC	NCBI36
NG_012338.1:g.20709_20711delinsGCC , LRG_504:g.20709_20711delinsGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1607_1609delinsGCC
ENST00000682162.1:c.1133_1135delinsGCC	ENSP00000508203.1:n.1133_1135delinsGCC
ENST00000682567.1:n.1181_1183delinsGCC
ENST00000683521.1:c.1104_1106delinsGCC	ENSP00000506864.1:p.Met368=
ENST00000684161.1:n.2319_2321delinsGCC
ENST00000684483.1:c.*500_*502delinsGCC	ENSP00000507894.1:n.*500_*502delinsGCC
ENST00000366560.4:c.1104_1106delinsGCC MANE Select	ENSP00000355518.4:p.Met368=
ENST00000366560.3:c.1104_1106delinsGCC	ENSP00000355518.3:p.Met368=
NM_000143.3:c.1104_1106delinsGCC , LRG_504t1:c.1104_1106delinsGCC	NP_000134.2:p.Met368=
XM_011544132.1:c.876_878delinsGCC	XP_011542434.1:p.Met292=
XM_011544132.2:c.876_878delinsGCC	XP_011542434.1:p.Met292=
NM_000143.4:c.1104_1106delinsGCC MANE Select	NP_000134.2:p.Met368=