Canonical Allele Identifier: CA2520310714

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504237_241504238insTTC , CM000663.2:g.241504237_241504238insTTC	GRCh38
NC_000001.10:g.241667537_241667538insTTC , CM000663.1:g.241667537_241667538insTTC	GRCh37
NC_000001.9:g.239734160_239734161insTTC	NCBI36
NG_012338.1:g.20517_20518insGAA , LRG_504:g.20517_20518insGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1415_1416insGAA
ENST00000682162.1:c.941_942insGAA	ENSP00000508203.1:n.941_942insGAA
ENST00000682567.1:n.989_990insGAA
ENST00000683521.1:c.912_913insGAA	ENSP00000506864.1:p.Pro304_Phe305insGlu
ENST00000684161.1:n.2127_2128insGAA
ENST00000684483.1:c.*308_*309insGAA	ENSP00000507894.1:n.*308_*309insGAA
ENST00000366560.4:c.912_913insGAA MANE Select	ENSP00000355518.4:p.Pro304_Phe305insGlu
ENST00000366560.3:c.912_913insGAA	ENSP00000355518.3:p.Pro304_Phe305insGlu
NM_000143.3:c.912_913insGAA , LRG_504t1:c.912_913insGAA	NP_000134.2:p.Pro304_Phe305insGlu
XM_011544132.1:c.684_685insGAA	XP_011542434.1:p.Pro228_Phe229insGlu
XM_011544132.2:c.684_685insGAA	XP_011542434.1:p.Pro228_Phe229insGlu
NM_000143.4:c.912_913insGAA MANE Select	NP_000134.2:p.Pro304_Phe305insGlu