Canonical Allele Identifier: CA357182
Gene: FERMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6115897_6115899del , CM000682.2:g.6115897_6115899del GRCh38
NC_000020.10:g.6096544_6096546del , CM000682.1:g.6096544_6096546del GRCh37
NC_000020.9:g.6044544_6044546del NCBI36
NG_016213.1:g.12648_12650del

Transcript Alleles

HGVS Amino-acid Change
ENST00000699095.1:c.299_301del ENSP00000514127.1:p.Arg100del
ENST00000699096.1:n.761_763del
ENST00000699098.1:c.299_301del ENSP00000514312.1:p.Arg100del
ENST00000217289.9:c.299_301del MANE Select ENSP00000217289.4:p.Arg100del
ENST00000217289.8:c.299_301del ENSP00000217289.4:p.Arg100del
ENST00000378844.1:c.299_301del ENSP00000368121.1:p.Arg100del
ENST00000536936.1:c.-259_-257del ENSP00000441063.1:n.-259_-257del
NM_017671.4:c.299_301del NP_060141.3:p.Arg100del
XM_024451935.1:c.299_301del XP_024307703.1:p.Arg100del
NM_017671.5:c.299_301del MANE Select NP_060141.3:p.Arg100del