Canonical Allele Identifier: CA2466664168

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380483_154380485delinsACT , CM000685.2:g.154380483_154380485delinsACT	GRCh38
NC_000023.10:g.153608843_153608845delinsACT , CM000685.1:g.153608843_153608845delinsACT	GRCh37
NC_000023.9:g.153262037_153262039delinsACT	NCBI36
NG_008677.1:g.11048_11050delinsACT , LRG_745:g.11048_11050delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.399+116_399+118delinsACT	ENSP00000507245.1:n.399+116_399+118delinsACT
ENST00000682478.1:n.589+116_589+118delinsACT
ENST00000683576.1:n.589+116_589+118delinsACT
ENST00000683627.1:c.399+116_399+118delinsACT	ENSP00000507533.1:n.399+116_399+118delinsACT
ENST00000684082.1:c.356+116_356+118delinsACT	ENSP00000508266.1:n.356+116_356+118delinsACT
ENST00000684633.1:n.371+116_371+118delinsACT
ENST00000684678.1:c.395+116_395+118delinsACT	ENSP00000507059.1:n.395+116_395+118delinsACT
ENST00000369842.9:c.399+116_399+118delinsACT MANE Select	ENSP00000358857.4:n.399+116_399+118delinsACT
ENST00000369835.3:c.294+116_294+118delinsACT	ENSP00000358850.3:n.294+116_294+118delinsACT
ENST00000369842.8:c.399+116_399+118delinsACT	ENSP00000358857.4:n.399+116_399+118delinsACT
ENST00000428228.5:c.*304+116_*304+118delinsACT	ENSP00000401081.1:n.*304+116_*304+118delinsACT
ENST00000468294.5:n.359+116_359+118delinsACT
ENST00000485261.1:n.589+116_589+118delinsACT
ENST00000486738.5:n.757+116_757+118delinsACT
ENST00000492448.1:n.382+116_382+118delinsACT
NM_000117.2:c.399+116_399+118delinsACT , LRG_745t1:c.399+116_399+118delinsACT	NP_000108.1:n.399+116_399+118delinsACT
XM_024452349.1:c.405+116_405+118delinsACT	XP_024308117.1:n.405+116_405+118delinsACT
NM_000117.3:c.399+116_399+118delinsACT MANE Select	NP_000108.1:n.399+116_399+118delinsACT