Canonical Allele Identifier: CA1229584144

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517314_241517315delinsTG , CM000663.2:g.241517314_241517315delinsTG	GRCh38
NC_000001.10:g.241680614_241680615delinsTG , CM000663.1:g.241680614_241680615delinsTG	GRCh37
NC_000001.9:g.239747237_239747238delinsTG	NCBI36
NG_012338.1:g.7440_7441delinsCA , LRG_504:g.7440_7441delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.637_638delinsCA
ENST00000682162.1:c.163_164delinsCA	ENSP00000508203.1:p.Gln55=
ENST00000682567.1:n.211_212delinsCA
ENST00000683521.1:c.134_135delinsCA	ENSP00000506864.1:p.Ala45=
ENST00000684483.1:c.134_135delinsCA	ENSP00000507894.1:p.Ala45=
ENST00000366560.4:c.134_135delinsCA MANE Select	ENSP00000355518.4:p.Ala45=
ENST00000366560.3:c.134_135delinsCA	ENSP00000355518.3:p.Ala45=
ENST00000493477.1:n.247_248delinsCA
NM_000143.3:c.134_135delinsCA , LRG_504t1:c.134_135delinsCA	NP_000134.2:p.Ala45=
XM_011544132.1:c.-95_-94delinsCA	XP_011542434.1:n.-95_-94delinsCA
XM_011544132.2:c.-95_-94delinsCA	XP_011542434.1:n.-95_-94delinsCA
NM_000143.4:c.134_135delinsCA MANE Select	NP_000134.2:p.Ala45=