Canonical Allele Identifier: CA2466663834
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379725_154379760delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC , CM000685.2:g.154379725_154379760delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC GRCh38
NC_000023.10:g.153608085_153608120delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC , CM000685.1:g.153608085_153608120delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC GRCh37
NC_000023.9:g.153261279_153261314delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC NCBI36
NG_008677.1:g.10290_10325delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC , LRG_745:g.10290_10325delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.118_153delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC ENSP00000507245.1:p.Glu40=
ENST00000682478.1:n.94_129delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC
ENST00000683576.1:n.94_129delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC
ENST00000683627.1:c.118_153delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC ENSP00000507533.1:p.Glu40=
ENST00000684082.1:c.118_153delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC ENSP00000508266.1:p.Glu40=
ENST00000684633.1:n.90_125delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC
ENST00000684678.1:c.114_149delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC ENSP00000507059.1:p.Ser38=
ENST00000369842.9:c.118_153delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC MANE Select ENSP00000358857.4:p.Glu40=
ENST00000369835.3:c.82+159_83-182delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC ENSP00000358850.3:n.82+159_83-182delinsGA...
ENST00000369842.8:c.118_153delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC ENSP00000358857.4:p.Glu40=
ENST00000428228.5:c.*23_*58delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC ENSP00000401081.1:n.*23_*58delinsGAGTACGA...
ENST00000468294.5:n.78_113delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC
ENST00000485261.1:n.163+159_164-182delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC
ENST00000486738.5:n.262_297delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC
ENST00000492448.1:n.101_136delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC
ENST00000494443.5:n.175_210delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC
NM_000117.2:c.118_153delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC , LRG_745t1:c.118_153delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC NP_000108.1:p.Glu40=
XM_024452349.1:c.-91_-56delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC XP_024308117.1:n.-91_-56delinsGAGTACGAGAC...
NM_000117.3:c.118_153delinsGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC MANE Select NP_000108.1:p.Glu40=