Canonical Allele Identifier: CA2579738791
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380402del , CM000685.2:g.154380402del GRCh38
NC_000023.10:g.153608762del , CM000685.1:g.153608762del GRCh37
NC_000023.9:g.153261956del NCBI36
NG_008677.1:g.10967del , LRG_745:g.10967del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.399+35del ENSP00000507245.1:n.399+35del
ENST00000682478.1:n.589+35del
ENST00000683576.1:n.589+35del
ENST00000683627.1:c.399+35del ENSP00000507533.1:n.399+35del
ENST00000684082.1:c.356+35del ENSP00000508266.1:n.356+35del
ENST00000684633.1:n.371+35del
ENST00000684678.1:c.395+35del ENSP00000507059.1:n.395+35del
ENST00000369842.9:c.399+35del MANE Select ENSP00000358857.4:n.399+35del
ENST00000369835.3:c.294+35del ENSP00000358850.3:n.294+35del
ENST00000369842.8:c.399+35del ENSP00000358857.4:n.399+35del
ENST00000428228.5:c.*304+35del ENSP00000401081.1:n.*304+35del
ENST00000468294.5:n.359+35del
ENST00000485261.1:n.589+35del
ENST00000486738.5:n.757+35del
ENST00000492448.1:n.382+35del
ENST00000494443.5:n.705del
NM_000117.2:c.399+35del , LRG_745t1:c.399+35del NP_000108.1:n.399+35del
XM_024452349.1:c.405+35del XP_024308117.1:n.405+35del
NM_000117.3:c.399+35del MANE Select NP_000108.1:n.399+35del