Canonical Allele Identifier: CA9758396

Gene: FERMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6110374dup , CM000682.2:g.6110374dup	GRCh38
NC_000020.10:g.6091021dup , CM000682.1:g.6091021dup	GRCh37
NC_000020.9:g.6039021dup	NCBI36
NG_016213.1:g.18177dup

Transcript Alleles

HGVS	Amino-acid Change
NM_017671.5:c.676dup MANE Select	NP_060141.3:p.Gln226ProfsTer17
ENST00000217289.9:c.676dup MANE Select	ENSP00000217289.4:p.Gln226ProfsTer17
NM_017671.4:c.676dup	NP_060141.3:p.Gln226ProfsTer17
ENST00000217289.8:c.676dup	ENSP00000217289.4:p.Gln226ProfsTer17
ENST00000536936.1:c.-26+2109dup	ENSP00000441063.1:n.-26+2109dup
ENST00000699095.1:c.676dup	ENSP00000514127.1:p.Gln226ProfsTer17
ENST00000699096.1:n.1138dup
ENST00000699098.1:c.676dup	ENSP00000514312.1:p.Gln226ProfsTer17
XM_024451935.1:c.676dup	XP_024307703.1:p.Gln226ProfsTer17