Canonical Allele Identifier: CA2466663832
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379720_154379748delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG , CM000685.2:g.154379720_154379748delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG GRCh38
NC_000023.10:g.153608080_153608108delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG , CM000685.1:g.153608080_153608108delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG GRCh37
NC_000023.9:g.153261274_153261302delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG NCBI36
NG_008677.1:g.10285_10313delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG , LRG_745:g.10285_10313delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.113_141delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG ENSP00000507245.1:p.Ile38=
ENST00000682478.1:n.89_117delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG
ENST00000683576.1:n.89_117delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG
ENST00000683627.1:c.113_141delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG ENSP00000507533.1:p.Ile38=
ENST00000684082.1:c.113_141delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG ENSP00000508266.1:p.Ile38=
ENST00000684633.1:n.85_113delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG
ENST00000684678.1:c.109_137delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG ENSP00000507059.1:p.Ser37=
ENST00000369842.9:c.113_141delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG MANE Select ENSP00000358857.4:p.Ile38=
ENST00000369835.3:c.82+154_82+182delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG ENSP00000358850.3:n.82+154_82+182delinsTC...
ENST00000369842.8:c.113_141delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG ENSP00000358857.4:p.Ile38=
ENST00000428228.5:c.*18_*46delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG ENSP00000401081.1:n.*18_*46delinsTCTTCGAG...
ENST00000468294.5:n.73_101delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG
ENST00000485261.1:n.163+154_163+182delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG
ENST00000486738.5:n.257_285delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG
ENST00000492448.1:n.96_124delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG
ENST00000494443.5:n.170_198delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG
NM_000117.2:c.113_141delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG , LRG_745t1:c.113_141delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG NP_000108.1:p.Ile38=
XM_024452349.1:c.-96_-68delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG XP_024308117.1:n.-96_-68delinsTCTTCGAGTAC...
NM_000117.3:c.113_141delinsTCTTCGAGTACGAGACCCAGAGGCGGCGG MANE Select NP_000108.1:p.Ile38=