Canonical Allele Identifier: CA891843639
Gene: EMD HGNC NCBI

Linked Data

ClinVar Variation Id: 585847
ClinVar RCV Id: RCV000711610
dbSNP Id: rs1569552080

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379723_154379750del , CM000685.2:g.154379723_154379750del GRCh38
NC_000023.10:g.153608083_153608110del , CM000685.1:g.153608083_153608110del GRCh37
NC_000023.9:g.153261277_153261304del NCBI36
NG_008677.1:g.10288_10315del , LRG_745:g.10288_10315del

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.116_143del ENSP00000507245.1:p.Phe39SerfsTer17
ENST00000682478.1:n.92_119del
ENST00000683576.1:n.92_119del
ENST00000683627.1:c.116_143del ENSP00000507533.1:p.Phe39SerfsTer17
ENST00000684082.1:c.116_143del ENSP00000508266.1:p.Phe39SerfsTer17
ENST00000684633.1:n.88_115del
ENST00000684678.1:c.112_139del ENSP00000507059.1:p.Ser38LeufsTer12
ENST00000369842.9:c.116_143del MANE Select ENSP00000358857.4:p.Phe39SerfsTer17
ENST00000369835.3:c.82+157_82+184del ENSP00000358850.3:n.82+157_82+184del
ENST00000369842.8:c.116_143del ENSP00000358857.4:p.Phe39SerfsTer17
ENST00000428228.5:c.*21_*48del ENSP00000401081.1:n.*21_*48del
ENST00000468294.5:n.76_103del
ENST00000485261.1:n.163+157_163+184del
ENST00000486738.5:n.260_287del
ENST00000492448.1:n.99_126del
ENST00000494443.5:n.173_200del
NM_000117.2:c.116_143del , LRG_745t1:c.116_143del NP_000108.1:p.Phe39SerfsTer17
XM_024452349.1:c.-93_-66del XP_024308117.1:n.-93_-66del
NM_000117.3:c.116_143del MANE Select NP_000108.1:p.Phe39SerfsTer17