Canonical Allele Identifier: CA357181

Gene: FERMT1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6115823del , CM000682.2:g.6115823del	GRCh38
NC_000020.10:g.6096470del , CM000682.1:g.6096470del	GRCh37
NC_000020.9:g.6044470del	NCBI36
NG_016213.1:g.12722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699095.1:c.373del	ENSP00000514127.1:p.Cys125AlafsTer4
ENST00000699096.1:n.835del
ENST00000699098.1:c.373del	ENSP00000514312.1:p.Cys125AlafsTer4
ENST00000217289.9:c.373del MANE Select	ENSP00000217289.4:p.Cys125AlafsTer4
ENST00000217289.8:c.373del	ENSP00000217289.4:p.Cys125AlafsTer4
ENST00000378844.1:c.373del	ENSP00000368121.1:p.Cys125AlafsTer4
ENST00000536936.1:c.-185del	ENSP00000441063.1:n.-185del
NM_017671.4:c.373del	NP_060141.3:p.Cys125AlafsTer4
XM_024451935.1:c.373del	XP_024307703.1:p.Cys125AlafsTer4
NM_017671.5:c.373del MANE Select	NP_060141.3:p.Cys125AlafsTer4