Canonical Allele Identifier: CA1229578125

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502473_241502474delinsAT , CM000663.2:g.241502473_241502474delinsAT	GRCh38
NC_000001.10:g.241665773_241665774delinsAT , CM000663.1:g.241665773_241665774delinsAT	GRCh37
NC_000001.9:g.239732396_239732397delinsAT	NCBI36
NG_012338.1:g.22281_22282delinsAT , LRG_504:g.22281_22282delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1708_1709delinsAT
ENST00000682162.1:c.1234_1235delinsAT	ENSP00000508203.1:n.1234_1235delinsAT
ENST00000682567.1:n.2753_2754delinsAT
ENST00000683521.1:c.1205_1206delinsAT	ENSP00000506864.1:p.His402=
ENST00000684161.1:n.2420_2421delinsAT
ENST00000684483.1:c.*601_*602delinsAT	ENSP00000507894.1:n.*601_*602delinsAT
ENST00000366560.4:c.1205_1206delinsAT MANE Select	ENSP00000355518.4:p.His402=
ENST00000366560.3:c.1205_1206delinsAT	ENSP00000355518.3:p.His402=
NM_000143.3:c.1205_1206delinsAT , LRG_504t1:c.1205_1206delinsAT	NP_000134.2:p.His402=
XM_011544132.1:c.977_978delinsAT	XP_011542434.1:p.His326=
XM_011544132.2:c.977_978delinsAT	XP_011542434.1:p.His326=
NM_000143.4:c.1205_1206delinsAT MANE Select	NP_000134.2:p.His402=