Canonical Allele Identifier: CA2466664133

Gene: EMD

Linked Data

• dbSNP Id: rs2067880495

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380395_154380405del , CM000685.2:g.154380395_154380405del	GRCh38
NC_000023.10:g.153608755_153608765del , CM000685.1:g.153608755_153608765del	GRCh37
NC_000023.9:g.153261949_153261959del	NCBI36
NG_008677.1:g.10960_10970del , LRG_745:g.10960_10970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.399+28_399+38del	ENSP00000507245.1:n.399+28_399+38del
ENST00000682478.1:n.589+28_589+38del
ENST00000683576.1:n.589+28_589+38del
ENST00000683627.1:c.399+28_399+38del	ENSP00000507533.1:n.399+28_399+38del
ENST00000684082.1:c.356+28_356+38del	ENSP00000508266.1:n.356+28_356+38del
ENST00000684633.1:n.371+28_371+38del
ENST00000684678.1:c.395+28_395+38del	ENSP00000507059.1:n.395+28_395+38del
ENST00000369842.9:c.399+28_399+38del MANE Select	ENSP00000358857.4:n.399+28_399+38del
ENST00000369835.3:c.294+28_294+38del	ENSP00000358850.3:n.294+28_294+38del
ENST00000369842.8:c.399+28_399+38del	ENSP00000358857.4:n.399+28_399+38del
ENST00000428228.5:c.*304+28_*304+38del	ENSP00000401081.1:n.*304+28_*304+38del
ENST00000468294.5:n.359+28_359+38del
ENST00000485261.1:n.589+28_589+38del
ENST00000486738.5:n.757+28_757+38del
ENST00000492448.1:n.382+28_382+38del
ENST00000494443.5:n.698_708del
NM_000117.2:c.399+28_399+38del , LRG_745t1:c.399+28_399+38del	NP_000108.1:n.399+28_399+38del
XM_024452349.1:c.405+28_405+38del	XP_024308117.1:n.405+28_405+38del
NM_000117.3:c.399+28_399+38del MANE Select	NP_000108.1:n.399+28_399+38del