Canonical Allele Identifier: CA2698421551
Gene: FH HGNC NCBI

Linked Data

dbSNP Id: rs2147922123

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512216_241512217insAATGAAGTCATTAGCAATAGAG , CM000663.2:g.241512216_241512217insAATGAAGTCATTAGCAATAGAG GRCh38
NC_000001.10:g.241675516_241675517insAATGAAGTCATTAGCAATAGAG , CM000663.1:g.241675516_241675517insAATGAAGTCATTAGCAATAGAG GRCh37
NC_000001.9:g.239742139_239742140insAATGAAGTCATTAGCAATAGAG NCBI36
NG_012338.1:g.12538_12539insCTCTATTGCTAATGACTTCATT , LRG_504:g.12538_12539insCTCTATTGCTAATGACTTCATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.882-74_882-73insCTCTATTGCTAATGACTTCATT
ENST00000682162.1:c.408-74_408-73insCTCTATTGCTAATGACTTCATT ENSP00000508203.1:n.408-74_408-73insCTCTATTGCTAATGACTTCATT
ENST00000682567.1:n.456-74_456-73insCTCTATTGCTAATGACTTCATT
ENST00000683521.1:c.379-74_379-73insCTCTATTGCTAATGACTTCATT ENSP00000506864.1:n.379-74_379-73insCTCTATTGCTAATGACTTCATT
ENST00000684483.1:c.379-74_379-73insCTCTATTGCTAATGACTTCATT ENSP00000507894.1:n.379-74_379-73insCTCTATTGCTAATGACTTCATT
ENST00000366560.4:c.379-74_379-73insCTCTATTGCTAATGACTTCATT MANE Select ENSP00000355518.4:n.379-74_379-73insCTCTATTGCTAATGACTTCATT
ENST00000366560.3:c.379-74_379-73insCTCTATTGCTAATGACTTCATT ENSP00000355518.3:n.379-74_379-73insCTCTATTGCTAATGACTTCATT
ENST00000497042.1:n.75-74_75-73insCTCTATTGCTAATGACTTCATT
NM_000143.3:c.379-74_379-73insCTCTATTGCTAATGACTTCATT , LRG_504t1:c.379-74_379-73insCTCTATTGCTAATGACTTCATT NP_000134.2:n.379-74_379-73insCTCTATTGCTAATGACTTCATT
XM_011544132.1:c.151-74_151-73insCTCTATTGCTAATGACTTCATT XP_011542434.1:n.151-74_151-73insCTCTATTGCTAATGACTTCATT
XM_011544132.2:c.151-74_151-73insCTCTATTGCTAATGACTTCATT XP_011542434.1:n.151-74_151-73insCTCTATTGCTAATGACTTCATT
NM_000143.4:c.379-74_379-73insCTCTATTGCTAATGACTTCATT MANE Select NP_000134.2:n.379-74_379-73insCTCTATTGCTAATGACTTCATT