Canonical Allele Identifier: CA658799911
Gene: EMD HGNC NCBI

Linked Data

ClinVar Variation Id: 531731
dbSNP Id: rs1557182301

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379742dup , CM000685.2:g.154379742dup GRCh38
NC_000023.10:g.153608102dup , CM000685.1:g.153608102dup GRCh37
NC_000023.9:g.153261296dup NCBI36
NG_008677.1:g.10307dup , LRG_745:g.10307dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.135dup ENSP00000507245.1:p.Arg46AlafsTer15
ENST00000682478.1:n.111dup
ENST00000683576.1:n.111dup
ENST00000683627.1:c.135dup ENSP00000507533.1:p.Arg46AlafsTer15
ENST00000684082.1:c.135dup ENSP00000508266.1:p.Arg46AlafsTer15
ENST00000684633.1:n.107dup
ENST00000684678.1:c.131dup ENSP00000507059.1:p.Gly45ArgfsTer?
ENST00000369842.9:c.135dup MANE Select ENSP00000358857.4:p.Arg46AlafsTer15
ENST00000369835.3:c.82+176dup ENSP00000358850.3:n.82+176dup
ENST00000369842.8:c.135dup ENSP00000358857.4:p.Arg46AlafsTer15
ENST00000428228.5:c.*40dup ENSP00000401081.1:n.*40dup
ENST00000468294.5:n.95dup
ENST00000485261.1:n.163+176dup
ENST00000486738.5:n.279dup
ENST00000492448.1:n.118dup
ENST00000494443.5:n.192dup
NM_000117.2:c.135dup , LRG_745t1:c.135dup NP_000108.1:p.Arg46AlafsTer15
XM_024452349.1:c.-74dup XP_024308117.1:n.-74dup
NM_000117.3:c.135dup MANE Select NP_000108.1:p.Arg46AlafsTer15