Canonical Allele Identifier: CA10650147

Gene: FERMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6085082_6085084delinsTTC , CM000682.2:g.6085082_6085084delinsTTC	GRCh38
NC_000020.10:g.6065729_6065731delinsTTC , CM000682.1:g.6065729_6065731delinsTTC	GRCh37
NC_000020.9:g.6013729_6013731delinsTTC	NCBI36
NG_016213.1:g.43461_43463delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699095.1:c.1575_1577delinsGAA	ENSP00000514127.1:p.Arg526Lys
ENST00000217289.9:c.1575_1577delinsGAA MANE Select	ENSP00000217289.4:p.Arg526Lys
ENST00000217289.8:c.1575_1577delinsGAA	ENSP00000217289.4:p.Arg526Lys
ENST00000478194.1:n.535_537delinsGAA
ENST00000536936.1:c.804_806delinsGAA	ENSP00000441063.1:p.Arg269Lys
NM_017671.4:c.1575_1577delinsGAA	NP_060141.3:p.Arg526Lys
XM_024451935.1:c.1575_1577delinsGAA	XP_024307703.1:p.Arg526Lys
NM_017671.5:c.1575_1577delinsGAA MANE Select	NP_060141.3:p.Arg526Lys