Canonical Allele Identifier: CA357169
Community Standard Title: NM_017671.5(FERMT1):c.1161del (p.Ala388LeufsTer14)
Gene: FERMT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6089071del , CM000682.2:g.6089071del GRCh38
NC_000020.10:g.6069718del , CM000682.1:g.6069718del GRCh37
NC_000020.9:g.6017718del NCBI36
NG_016213.1:g.39477del

Transcript Alleles

HGVS Amino-acid Change
NM_017671.5:c.1161del MANE Select NP_060141.3:p.Ala388LeufsTer14
ENST00000217289.9:c.1161del MANE Select ENSP00000217289.4:p.Ala388LeufsTer14
NM_017671.4:c.1161del NP_060141.3:p.Ala388LeufsTer14
ENST00000217289.8:c.1161del ENSP00000217289.4:p.Ala388LeufsTer14
ENST00000478194.1:n.121del
ENST00000536936.1:c.390del ENSP00000441063.1:p.Ala131LeufsTer14
ENST00000699095.1:c.1161del ENSP00000514127.1:p.Ala388LeufsTer14
ENST00000699096.1:n.1623del
XM_024451935.1:c.1161del XP_024307703.1:p.Ala388LeufsTer14
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