Canonical Allele Identifier: CA2543419701

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502571_241502572insAGGCATGATAGAGCTACCTGG , CM000663.2:g.241502571_241502572insAGGCATGATAGAGCTACCTGG	GRCh38
NC_000001.10:g.241665871_241665872insAGGCATGATAGAGCTACCTGG , CM000663.1:g.241665871_241665872insAGGCATGATAGAGCTACCTGG	GRCh37
NC_000001.9:g.239732494_239732495insAGGCATGATAGAGCTACCTGG	NCBI36
NG_012338.1:g.22183_22184insCCAGGTAGCTCTATCATGCCT , LRG_504:g.22183_22184insCCAGGTAGCTCTATCATGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1612-2_1612-1insCCAGGTAGCTCTATCATGCCT
ENST00000682162.1:c.1138-2_1138-1insCCAGGTAGCTCTATCATGCCT	ENSP00000508203.1:n.1138-2_1138-1insCCAGGTAGCTCTATCATGCCT
ENST00000682567.1:n.2655_2656insCCAGGTAGCTCTATCATGCCT
ENST00000683521.1:c.1109-2_1109-1insCCAGGTAGCTCTATCATGCCT	ENSP00000506864.1:n.1109-2_1109-1insCCAGGTAGCTCTATCATGCCT
ENST00000684161.1:n.2324-2_2324-1insCCAGGTAGCTCTATCATGCCT
ENST00000684483.1:c.*505-2_*505-1insCCAGGTAGCTCTATCATGCCT	ENSP00000507894.1:n.*505-2_*505-1insCCAGGTAGCTCTATCATGCCT
ENST00000366560.4:c.1109-2_1109-1insCCAGGTAGCTCTATCATGCCT MANE Select	ENSP00000355518.4:n.1109-2_1109-1insCCAGGTAGCTCTATCATGCCT
ENST00000366560.3:c.1109-2_1109-1insCCAGGTAGCTCTATCATGCCT	ENSP00000355518.3:n.1109-2_1109-1insCCAGGTAGCTCTATCATGCCT
NM_000143.3:c.1109-2_1109-1insCCAGGTAGCTCTATCATGCCT , LRG_504t1:c.1109-2_1109-1insCCAGGTAGCTCTATCATGCCT	NP_000134.2:n.1109-2_1109-1insCCAGGTAGCTCTATCATGCCT
XM_011544132.1:c.881-2_881-1insCCAGGTAGCTCTATCATGCCT	XP_011542434.1:n.881-2_881-1insCCAGGTAGCTCTATCATGCCT
XM_011544132.2:c.881-2_881-1insCCAGGTAGCTCTATCATGCCT	XP_011542434.1:n.881-2_881-1insCCAGGTAGCTCTATCATGCCT
NM_000143.4:c.1109-2_1109-1insCCAGGTAGCTCTATCATGCCT MANE Select	NP_000134.2:n.1109-2_1109-1insCCAGGTAGCTCTATCATGCCT