Canonical Allele Identifier: CA273589
Gene: EMD HGNC NCBI

Linked Data

ClinVar Variation Id: 179133
ClinVar RCV Id: RCV000155918
dbSNP Id: rs730880352

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154381082_154381086dup , CM000685.2:g.154381082_154381086dup GRCh38
NC_000023.10:g.153609442_153609446dup , CM000685.1:g.153609442_153609446dup GRCh37
NC_000023.9:g.153262636_153262640dup NCBI36
NG_008677.1:g.11647_11651dup , LRG_745:g.11647_11651dup

Transcript Alleles

HGVS Amino-acid change
ENST00000369842.9:c.650_654dup MANE Select ENSP00000358857.4:p.Gln219TrpfsTer20
ENST00000369835.3:c.545_549dup ENSP00000358850.3:p.Gln184TrpfsTer20
ENST00000369842.8:c.650_654dup ENSP00000358857.4:p.Gln219TrpfsTer20
ENST00000428228.5:c.*555_*559dup ENSP00000401081.1:p.=
ENST00000471965.1:n.439_443dup
ENST00000486738.5:n.1087_1091dup
ENST00000492448.1:n.633_637dup
NM_000117.2:c.650_654dup , LRG_745t1:c.650_654dup NP_000108.1:p.Gln219TrpfsTer20
XM_024452349.1:c.656_660dup XP_024308117.1:p.Gln221TrpfsTer20
NM_000117.3:c.650_654dup MANE Select NP_000108.1:p.Gln219TrpfsTer20