Canonical Allele Identifier: CA2466664352
Gene: EMD HGNC NCBI

Linked Data

dbSNP Id: rs2067883500

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380874del , CM000685.2:g.154380874del GRCh38
NC_000023.10:g.153609234del , CM000685.1:g.153609234del GRCh37
NC_000023.9:g.153262428del NCBI36
NG_008677.1:g.11439del , LRG_745:g.11439del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.450-8del ENSP00000507245.1:n.450-8del
ENST00000682478.1:n.640-8del
ENST00000683576.1:n.640-8del
ENST00000683627.1:c.450-8del ENSP00000507533.1:n.450-8del
ENST00000684082.1:c.407-8del ENSP00000508266.1:n.407-8del
ENST00000684633.1:n.422-8del
ENST00000684678.1:c.446-8del ENSP00000507059.1:n.446-8del
ENST00000369842.9:c.450-8del MANE Select ENSP00000358857.4:n.450-8del
ENST00000369835.3:c.345-8del ENSP00000358850.3:n.345-8del
ENST00000369842.8:c.450-8del ENSP00000358857.4:n.450-8del
ENST00000428228.5:c.*355-8del ENSP00000401081.1:n.*355-8del
ENST00000468294.5:n.481del
ENST00000471965.1:n.239-8del
ENST00000485261.1:n.711del
ENST00000486738.5:n.879del
ENST00000492448.1:n.433-8del
NM_000117.2:c.450-8del , LRG_745t1:c.450-8del NP_000108.1:n.450-8del
XM_024452349.1:c.456-8del XP_024308117.1:n.456-8del
NM_000117.3:c.450-8del MANE Select NP_000108.1:n.450-8del