Canonical Allele Identifier: CA2579738812

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380434del , CM000685.2:g.154380434del	GRCh38
NC_000023.10:g.153608794del , CM000685.1:g.153608794del	GRCh37
NC_000023.9:g.153261988del	NCBI36
NG_008677.1:g.10999del , LRG_745:g.10999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.399+67del	ENSP00000507245.1:n.399+67del
ENST00000682478.1:n.589+67del
ENST00000683576.1:n.589+67del
ENST00000683627.1:c.399+67del	ENSP00000507533.1:n.399+67del
ENST00000684082.1:c.356+67del	ENSP00000508266.1:n.356+67del
ENST00000684633.1:n.371+67del
ENST00000684678.1:c.395+67del	ENSP00000507059.1:n.395+67del
ENST00000369842.9:c.399+67del MANE Select	ENSP00000358857.4:n.399+67del
ENST00000369835.3:c.294+67del	ENSP00000358850.3:n.294+67del
ENST00000369842.8:c.399+67del	ENSP00000358857.4:n.399+67del
ENST00000428228.5:c.*304+67del	ENSP00000401081.1:n.*304+67del
ENST00000468294.5:n.359+67del
ENST00000485261.1:n.589+67del
ENST00000486738.5:n.757+67del
ENST00000492448.1:n.382+67del
ENST00000494443.5:n.737del
NM_000117.2:c.399+67del , LRG_745t1:c.399+67del	NP_000108.1:n.399+67del
XM_024452349.1:c.405+67del	XP_024308117.1:n.405+67del
NM_000117.3:c.399+67del MANE Select	NP_000108.1:n.399+67del