Canonical Allele Identifier: CA2347806398
Gene: FERMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6107496_6107497delinsTA , CM000682.2:g.6107496_6107497delinsTA GRCh38
NC_000020.10:g.6088143_6088144delinsTA , CM000682.1:g.6088143_6088144delinsTA GRCh37
NC_000020.9:g.6036143_6036144delinsTA NCBI36
NG_016213.1:g.21048_21049delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000699095.1:c.849+35_849+36delinsTA ENSP00000514127.1:n.849+35_849+36delinsTA
ENST00000699096.1:n.1311+35_1311+36delinsTA
ENST00000699097.1:n.19+35_19+36delinsTA
ENST00000699098.1:c.884_885delinsTA ENSP00000514312.1:p.Leu295=
ENST00000217289.9:c.849+35_849+36delinsTA MANE Select ENSP00000217289.4:n.849+35_849+36delinsTA
ENST00000217289.8:c.849+35_849+36delinsTA ENSP00000217289.4:n.849+35_849+36delinsTA
ENST00000536936.1:c.78+35_78+36delinsTA ENSP00000441063.1:n.78+35_78+36delinsTA
NM_017671.4:c.849+35_849+36delinsTA NP_060141.3:n.849+35_849+36delinsTA
XM_024451935.1:c.849+35_849+36delinsTA XP_024307703.1:n.849+35_849+36delinsTA
NM_017671.5:c.849+35_849+36delinsTA MANE Select NP_060141.3:n.849+35_849+36delinsTA