Canonical Allele Identifier: CA2695115159

Gene: EMD

Linked Data

• gnomAD v4: X-154380074-CCCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380076_154380079del , CM000685.2:g.154380076_154380079del	GRCh38
NC_000023.10:g.153608436_153608439del , CM000685.1:g.153608436_153608439del	GRCh37
NC_000023.9:g.153261630_153261633del	NCBI36
NG_008677.1:g.10641_10644del , LRG_745:g.10641_10644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.265+57_265+60del	ENSP00000507245.1:n.265+57_265+60del
ENST00000682478.1:n.298_301del
ENST00000683576.1:n.298_301del
ENST00000683627.1:c.265+57_265+60del	ENSP00000507533.1:n.265+57_265+60del
ENST00000684082.1:c.265+57_265+60del	ENSP00000508266.1:n.265+57_265+60del
ENST00000684633.1:n.237+57_237+60del
ENST00000684678.1:c.261+57_261+60del	ENSP00000507059.1:n.261+57_261+60del
ENST00000369842.9:c.265+57_265+60del MANE Select	ENSP00000358857.4:n.265+57_265+60del
ENST00000369835.3:c.160+57_160+60del	ENSP00000358850.3:n.160+57_160+60del
ENST00000369842.8:c.265+57_265+60del	ENSP00000358857.4:n.265+57_265+60del
ENST00000428228.5:c.*170+57_*170+60del	ENSP00000401081.1:n.*170+57_*170+60del
ENST00000468294.5:n.225+57_225+60del
ENST00000485261.1:n.298_301del
ENST00000486738.5:n.466_469del
ENST00000492448.1:n.248+57_248+60del
ENST00000494443.5:n.379_382del
NM_000117.2:c.265+57_265+60del , LRG_745t1:c.265+57_265+60del	NP_000108.1:n.265+57_265+60del
XM_024452349.1:c.114_117del	XP_024308117.1:p.Arg39HisfsTer16
NM_000117.3:c.265+57_265+60del MANE Select	NP_000108.1:n.265+57_265+60del