Canonical Allele Identifier: CA2824296173
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380169del , CM000685.2:g.154380169del GRCh38
NC_000023.10:g.153608529del , CM000685.1:g.153608529del GRCh37
NC_000023.9:g.153261723del NCBI36
NG_008677.1:g.10734del , LRG_745:g.10734del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.266-65del ENSP00000507245.1:n.266-65del
ENST00000682478.1:n.391del
ENST00000683576.1:n.391del
ENST00000683627.1:c.266-65del ENSP00000507533.1:n.266-65del
ENST00000684082.1:c.266-108del ENSP00000508266.1:n.266-108del
ENST00000684633.1:n.238-65del
ENST00000684678.1:c.262-65del ENSP00000507059.1:n.262-65del
ENST00000369842.9:c.266-65del MANE Select ENSP00000358857.4:n.266-65del
ENST00000369835.3:c.161-65del ENSP00000358850.3:n.161-65del
ENST00000369842.8:c.266-65del ENSP00000358857.4:n.266-65del
ENST00000428228.5:c.*171-65del ENSP00000401081.1:n.*171-65del
ENST00000468294.5:n.226-65del
ENST00000485261.1:n.391del
ENST00000486738.5:n.559del
ENST00000492448.1:n.249-65del
ENST00000494443.5:n.472del
NM_000117.2:c.266-65del , LRG_745t1:c.266-65del NP_000108.1:n.266-65del
XM_024452349.1:c.207del XP_024308117.1:p.Arg70GlyfsTer?
NM_000117.3:c.266-65del MANE Select NP_000108.1:n.266-65del