Canonical Allele Identifier: CA2466664183

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380526_154380528delinsACT , CM000685.2:g.154380526_154380528delinsACT	GRCh38
NC_000023.10:g.153608886_153608888delinsACT , CM000685.1:g.153608886_153608888delinsACT	GRCh37
NC_000023.9:g.153262080_153262082delinsACT	NCBI36
NG_008677.1:g.11091_11093delinsACT , LRG_745:g.11091_11093delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.399+159_399+161delinsACT	ENSP00000507245.1:n.399+159_399+161delinsACT
ENST00000682478.1:n.589+159_589+161delinsACT
ENST00000683576.1:n.589+159_589+161delinsACT
ENST00000683627.1:c.399+159_399+161delinsACT	ENSP00000507533.1:n.399+159_399+161delinsACT
ENST00000684082.1:c.356+159_356+161delinsACT	ENSP00000508266.1:n.356+159_356+161delinsACT
ENST00000684633.1:n.371+159_371+161delinsACT
ENST00000684678.1:c.395+159_395+161delinsACT	ENSP00000507059.1:n.395+159_395+161delinsACT
ENST00000369842.9:c.399+159_399+161delinsACT MANE Select	ENSP00000358857.4:n.399+159_399+161delinsACT
ENST00000369835.3:c.294+159_294+161delinsACT	ENSP00000358850.3:n.294+159_294+161delinsACT
ENST00000369842.8:c.399+159_399+161delinsACT	ENSP00000358857.4:n.399+159_399+161delinsACT
ENST00000428228.5:c.*304+159_*304+161delinsACT	ENSP00000401081.1:n.*304+159_*304+161delinsACT
ENST00000468294.5:n.359+159_359+161delinsACT
ENST00000485261.1:n.589+159_589+161delinsACT
ENST00000486738.5:n.757+159_757+161delinsACT
ENST00000492448.1:n.382+159_382+161delinsACT
NM_000117.2:c.399+159_399+161delinsACT , LRG_745t1:c.399+159_399+161delinsACT	NP_000108.1:n.399+159_399+161delinsACT
XM_024452349.1:c.405+159_405+161delinsACT	XP_024308117.1:n.405+159_405+161delinsACT
NM_000117.3:c.399+159_399+161delinsACT MANE Select	NP_000108.1:n.399+159_399+161delinsACT