Canonical Allele Identifier: CA2466664172

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380486_154380488delinsCTG , CM000685.2:g.154380486_154380488delinsCTG	GRCh38
NC_000023.10:g.153608846_153608848delinsCTG , CM000685.1:g.153608846_153608848delinsCTG	GRCh37
NC_000023.9:g.153262040_153262042delinsCTG	NCBI36
NG_008677.1:g.11051_11053delinsCTG , LRG_745:g.11051_11053delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.399+119_399+121delinsCTG	ENSP00000507245.1:n.399+119_399+121delinsCTG
ENST00000682478.1:n.589+119_589+121delinsCTG
ENST00000683576.1:n.589+119_589+121delinsCTG
ENST00000683627.1:c.399+119_399+121delinsCTG	ENSP00000507533.1:n.399+119_399+121delinsCTG
ENST00000684082.1:c.356+119_356+121delinsCTG	ENSP00000508266.1:n.356+119_356+121delinsCTG
ENST00000684633.1:n.371+119_371+121delinsCTG
ENST00000684678.1:c.395+119_395+121delinsCTG	ENSP00000507059.1:n.395+119_395+121delinsCTG
ENST00000369842.9:c.399+119_399+121delinsCTG MANE Select	ENSP00000358857.4:n.399+119_399+121delinsCTG
ENST00000369835.3:c.294+119_294+121delinsCTG	ENSP00000358850.3:n.294+119_294+121delinsCTG
ENST00000369842.8:c.399+119_399+121delinsCTG	ENSP00000358857.4:n.399+119_399+121delinsCTG
ENST00000428228.5:c.*304+119_*304+121delinsCTG	ENSP00000401081.1:n.*304+119_*304+121delinsCTG
ENST00000468294.5:n.359+119_359+121delinsCTG
ENST00000485261.1:n.589+119_589+121delinsCTG
ENST00000486738.5:n.757+119_757+121delinsCTG
ENST00000492448.1:n.382+119_382+121delinsCTG
NM_000117.2:c.399+119_399+121delinsCTG , LRG_745t1:c.399+119_399+121delinsCTG	NP_000108.1:n.399+119_399+121delinsCTG
XM_024452349.1:c.405+119_405+121delinsCTG	XP_024308117.1:n.405+119_405+121delinsCTG
NM_000117.3:c.399+119_399+121delinsCTG MANE Select	NP_000108.1:n.399+119_399+121delinsCTG