Canonical Allele Identifier: CA2555537350
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380561del , CM000685.2:g.154380561del GRCh38
NC_000023.10:g.153608921del , CM000685.1:g.153608921del GRCh37
NC_000023.9:g.153262115del NCBI36
NG_008677.1:g.11126del , LRG_745:g.11126del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.400-192del ENSP00000507245.1:n.400-192del
ENST00000682478.1:n.590-192del
ENST00000683576.1:n.590-192del
ENST00000683627.1:c.400-192del ENSP00000507533.1:n.400-192del
ENST00000684082.1:c.357-192del ENSP00000508266.1:n.357-192del
ENST00000684633.1:n.372-192del
ENST00000684678.1:c.396-192del ENSP00000507059.1:n.396-192del
ENST00000369842.9:c.400-192del MANE Select ENSP00000358857.4:n.400-192del
ENST00000369835.3:c.295-192del ENSP00000358850.3:n.295-192del
ENST00000369842.8:c.400-192del ENSP00000358857.4:n.400-192del
ENST00000428228.5:c.*305-192del ENSP00000401081.1:n.*305-192del
ENST00000468294.5:n.360-192del
ENST00000485261.1:n.590-192del
ENST00000486738.5:n.758-192del
ENST00000492448.1:n.383-192del
NM_000117.2:c.400-192del , LRG_745t1:c.400-192del NP_000108.1:n.400-192del
XM_024452349.1:c.406-192del XP_024308117.1:n.406-192del
NM_000117.3:c.400-192del MANE Select NP_000108.1:n.400-192del