Canonical Allele Identifier: CA2466664410

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380996_154380997delinsCT , CM000685.2:g.154380996_154380997delinsCT	GRCh38
NC_000023.10:g.153609356_153609357delinsCT , CM000685.1:g.153609356_153609357delinsCT	GRCh37
NC_000023.9:g.153262550_153262551delinsCT	NCBI36
NG_008677.1:g.11561_11562delinsCT , LRG_745:g.11561_11562delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.564_565delinsCT	ENSP00000507245.1:p.Thr188=
ENST00000682478.1:n.754_755delinsCT
ENST00000683576.1:n.754_755delinsCT
ENST00000683627.1:c.564_565delinsCT	ENSP00000507533.1:p.Thr188=
ENST00000684082.1:c.521_522delinsCT	ENSP00000508266.1:n.521_522delinsCT
ENST00000684633.1:n.536_537delinsCT
ENST00000684678.1:c.560_561delinsCT	ENSP00000507059.1:n.560_561delinsCT
ENST00000369842.9:c.564_565delinsCT MANE Select	ENSP00000358857.4:p.Thr188=
ENST00000369835.3:c.459_460delinsCT	ENSP00000358850.3:p.Thr153=
ENST00000369842.8:c.564_565delinsCT	ENSP00000358857.4:p.Thr188=
ENST00000428228.5:c.*469_*470delinsCT	ENSP00000401081.1:n.*469_*470delinsCT
ENST00000471965.1:n.353_354delinsCT
ENST00000486738.5:n.1001_1002delinsCT
ENST00000492448.1:n.547_548delinsCT
NM_000117.2:c.564_565delinsCT , LRG_745t1:c.564_565delinsCT	NP_000108.1:p.Thr188=
XM_024452349.1:c.570_571delinsCT	XP_024308117.1:p.Thr190=
NM_000117.3:c.564_565delinsCT MANE Select	NP_000108.1:p.Thr188=