Canonical Allele Identifier: CA357198

Gene: FERMT1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6110494dup , CM000682.2:g.6110494dup	GRCh38
NC_000020.10:g.6091141dup , CM000682.1:g.6091141dup	GRCh37
NC_000020.9:g.6039141dup	NCBI36
NG_016213.1:g.18051dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699095.1:c.550dup	ENSP00000514127.1:p.Ser184LysfsTer2
ENST00000699096.1:n.1012dup
ENST00000699098.1:c.550dup	ENSP00000514312.1:p.Ser184LysfsTer2
ENST00000217289.9:c.550dup MANE Select	ENSP00000217289.4:p.Ser184LysfsTer2
ENST00000217289.8:c.550dup	ENSP00000217289.4:p.Ser184LysfsTer2
ENST00000536936.1:c.-26+1983dup	ENSP00000441063.1:n.-26+1983dup
NM_017671.4:c.550dup	NP_060141.3:p.Ser184LysfsTer2
XM_024451935.1:c.550dup	XP_024307703.1:p.Ser184LysfsTer2
NM_017671.5:c.550dup MANE Select	NP_060141.3:p.Ser184LysfsTer2