Canonical Allele Identifier: CA2466664187

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380534_154380536delinsTGA , CM000685.2:g.154380534_154380536delinsTGA	GRCh38
NC_000023.10:g.153608894_153608896delinsTGA , CM000685.1:g.153608894_153608896delinsTGA	GRCh37
NC_000023.9:g.153262088_153262090delinsTGA	NCBI36
NG_008677.1:g.11099_11101delinsTGA , LRG_745:g.11099_11101delinsTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.399+167_399+169delinsTGA	ENSP00000507245.1:n.399+167_399+169delinsTGA
ENST00000682478.1:n.589+167_589+169delinsTGA
ENST00000683576.1:n.589+167_589+169delinsTGA
ENST00000683627.1:c.399+167_399+169delinsTGA	ENSP00000507533.1:n.399+167_399+169delinsTGA
ENST00000684082.1:c.356+167_356+169delinsTGA	ENSP00000508266.1:n.356+167_356+169delinsTGA
ENST00000684633.1:n.371+167_371+169delinsTGA
ENST00000684678.1:c.395+167_395+169delinsTGA	ENSP00000507059.1:n.395+167_395+169delinsTGA
ENST00000369842.9:c.399+167_399+169delinsTGA MANE Select	ENSP00000358857.4:n.399+167_399+169delinsTGA
ENST00000369835.3:c.294+167_294+169delinsTGA	ENSP00000358850.3:n.294+167_294+169delinsTGA
ENST00000369842.8:c.399+167_399+169delinsTGA	ENSP00000358857.4:n.399+167_399+169delinsTGA
ENST00000428228.5:c.*304+167_*304+169delinsTGA	ENSP00000401081.1:n.*304+167_*304+169delinsTGA
ENST00000468294.5:n.359+167_359+169delinsTGA
ENST00000485261.1:n.589+167_589+169delinsTGA
ENST00000486738.5:n.757+167_757+169delinsTGA
ENST00000492448.1:n.382+167_382+169delinsTGA
NM_000117.2:c.399+167_399+169delinsTGA , LRG_745t1:c.399+167_399+169delinsTGA	NP_000108.1:n.399+167_399+169delinsTGA
XM_024452349.1:c.405+167_405+169delinsTGA	XP_024308117.1:n.405+167_405+169delinsTGA
NM_000117.3:c.399+167_399+169delinsTGA MANE Select	NP_000108.1:n.399+167_399+169delinsTGA