Canonical Allele Identifier: CA2824281288

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380993del , CM000685.2:g.154380993del	GRCh38
NC_000023.10:g.153609353del , CM000685.1:g.153609353del	GRCh37
NC_000023.9:g.153262547del	NCBI36
NG_008677.1:g.11558del , LRG_745:g.11558del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.561del	ENSP00000507245.1:p.Thr188ProfsTer14
ENST00000682478.1:n.751del
ENST00000683576.1:n.751del
ENST00000683627.1:c.561del	ENSP00000507533.1:p.Thr188ProfsTer?
ENST00000684082.1:c.518del	ENSP00000508266.1:n.518del
ENST00000684633.1:n.533del
ENST00000684678.1:c.557del	ENSP00000507059.1:n.557del
ENST00000369842.9:c.561del MANE Select	ENSP00000358857.4:p.Thr188ProfsTer?
ENST00000369835.3:c.456del	ENSP00000358850.3:p.Thr153ProfsTer?
ENST00000369842.8:c.561del	ENSP00000358857.4:p.Thr188ProfsTer?
ENST00000428228.5:c.*466del	ENSP00000401081.1:n.*466del
ENST00000471965.1:n.350del
ENST00000486738.5:n.998del
ENST00000492448.1:n.544del
NM_000117.2:c.561del , LRG_745t1:c.561del	NP_000108.1:p.Thr188ProfsTer?
XM_024452349.1:c.567del	XP_024308117.1:p.Thr190ProfsTer?
NM_000117.3:c.561del MANE Select	NP_000108.1:p.Thr188ProfsTer?