Canonical Allele Identifier: CA5967403
Community Standard Title: NM_000506.5(F2):c.1814_1815del (p.His605ArgfsTer13)
Gene: F2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46739353_46739354del , CM000673.2:g.46739353_46739354del GRCh38
NC_000011.9:g.46760903_46760904del , CM000673.1:g.46760903_46760904del GRCh37
NC_000011.8:g.46717479_46717480del NCBI36
NG_008953.1:g.25161_25162del , LRG_551:g.25161_25162del

Transcript Alleles

HGVS Amino-acid Change
NM_000506.5:c.1814_1815del MANE Select NP_000497.1:p.His605ArgfsTer13
ENST00000311907.10:c.1814_1815del MANE Select ENSP00000308541.5:p.His605ArgfsTer13
NM_000506.3:c.1814_1815del NP_000497.1:p.His605ArgfsTer13
NM_000506.4:c.1814_1815del , LRG_551t1:c.1814_1815del NP_000497.1:p.His605ArgfsTer13
NM_001311257.1:c.1766_1767del NP_001298186.1:p.His589ArgfsTer13
NM_001311257.2:c.1766_1767del NP_001298186.1:p.His589ArgfsTer13
ENST00000311907.9:c.1814_1815del ENSP00000308541.5:p.His605ArgfsTer13
ENST00000530231.5:c.1697_1698del ENSP00000433907.1:p.His566ArgfsTer13
XR_428840.2:n.1676_1677del
XR_428840.4:n.1667_1668del