Canonical Allele Identifier: CA530378731
Community Standard Title: NM_020066.5(FMN2):c.1550del (p.Pro517GlnfsTer?)
Gene: FMN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.240093659del , CM000663.2:g.240093659del GRCh38
NC_000001.10:g.240256959del , CM000663.1:g.240256959del GRCh37
NC_000001.9:g.238323582del NCBI36
NG_042054.1:g.6775del

Transcript Alleles

HGVS Amino-acid Change
NM_020066.5:c.1550del MANE Select NP_064450.3:p.Pro517GlnfsTer?
ENST00000319653.14:c.1550del MANE Select ENSP00000318884.9:p.Pro517GlnfsTer?
NM_001305424.1:c.1550del NP_001292353.1:p.Pro517GlnfsTer?
NM_001305424.2:c.1550del NP_001292353.1:p.Pro517GlnfsTer?
NM_001348094.1:c.1550del NP_001335023.1:p.Pro517GlnfsTer?
NM_001348094.2:c.1550del NP_001335023.1:p.Pro517GlnfsTer?
NM_020066.4:c.1550del NP_064450.3:p.Pro517GlnfsTer?
ENST00000319653.13:c.1550del ENSP00000318884.9:p.Pro517GlnfsTer?
ENST00000447095.5:c.-87+25586del ENSP00000409308.1:n.-87+25586del
XM_011544237.1:c.1550del XP_011542539.1:p.Pro517GlnfsTer?
XM_011544237.3:c.1550del XP_011542539.1:p.Pro517GlnfsTer?
XM_017001837.1:c.1550del XP_016857326.1:p.Pro517GlnfsTer?
XM_017001838.1:c.1550del XP_016857327.1:p.Pro517GlnfsTer?
XR_949151.1:n.1771del