Canonical Allele Identifier: CA1229578084

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502381_241502382delinsAT , CM000663.2:g.241502381_241502382delinsAT	GRCh38
NC_000001.10:g.241665681_241665682delinsAT , CM000663.1:g.241665681_241665682delinsAT	GRCh37
NC_000001.9:g.239732304_239732305delinsAT	NCBI36
NG_012338.1:g.22373_22374delinsAT , LRG_504:g.22373_22374delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1739+61_1739+62delinsAT
ENST00000682162.1:c.1265+61_1265+62delinsAT	ENSP00000508203.1:n.1265+61_1265+62delinsAT
ENST00000682567.1:n.2845_2846delinsAT
ENST00000683521.1:c.1236+61_1236+62delinsAT	ENSP00000506864.1:n.1236+61_1236+62delinsAT
ENST00000684161.1:n.2451+61_2451+62delinsAT
ENST00000684483.1:c.*632+61_*632+62delinsAT	ENSP00000507894.1:n.*632+61_*632+62delinsAT
ENST00000366560.4:c.1236+61_1236+62delinsAT MANE Select	ENSP00000355518.4:n.1236+61_1236+62delinsAT
ENST00000366560.3:c.1236+61_1236+62delinsAT	ENSP00000355518.3:n.1236+61_1236+62delinsAT
NM_000143.3:c.1236+61_1236+62delinsAT , LRG_504t1:c.1236+61_1236+62delinsAT	NP_000134.2:n.1236+61_1236+62delinsAT
XM_011544132.1:c.1008+61_1008+62delinsAT	XP_011542434.1:n.1008+61_1008+62delinsAT
XM_011544132.2:c.1008+61_1008+62delinsAT	XP_011542434.1:n.1008+61_1008+62delinsAT
NM_000143.4:c.1236+61_1236+62delinsAT MANE Select	NP_000134.2:n.1236+61_1236+62delinsAT