Canonical Allele Identifier: CA2347806403
Gene: FERMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6107500_6107502delinsAAG , CM000682.2:g.6107500_6107502delinsAAG GRCh38
NC_000020.10:g.6088147_6088149delinsAAG , CM000682.1:g.6088147_6088149delinsAAG GRCh37
NC_000020.9:g.6036147_6036149delinsAAG NCBI36
NG_016213.1:g.21043_21045delinsCTT

Transcript Alleles

HGVS Amino-acid change
ENST00000699095.1:c.849+30_849+32delinsCTT ENSP00000514127.1:n.849+30_849+32delinsCT...
ENST00000699096.1:n.1311+30_1311+32delinsCTT
ENST00000699097.1:n.19+30_19+32delinsCTT
ENST00000699098.1:c.879_881delinsCTT ENSP00000514312.1:p.Leu293=
ENST00000217289.9:c.849+30_849+32delinsCTT MANE Select ENSP00000217289.4:n.849+30_849+32delinsCT...
ENST00000217289.8:c.849+30_849+32delinsCTT ENSP00000217289.4:n.849+30_849+32delinsCT...
ENST00000536936.1:c.78+30_78+32delinsCTT ENSP00000441063.1:n.78+30_78+32delinsCTT
NM_017671.4:c.849+30_849+32delinsCTT NP_060141.3:n.849+30_849+32delinsCTT
XM_024451935.1:c.849+30_849+32delinsCTT XP_024307703.1:n.849+30_849+32delinsCTT
NM_017671.5:c.849+30_849+32delinsCTT MANE Select NP_060141.3:n.849+30_849+32delinsCTT