Canonical Allele Identifier: CA2466663783
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379618_154379643delinsTCGCGACCTCCCCGCTGCCCTCCCCG , CM000685.2:g.154379618_154379643delinsTCGCGACCTCCCCGCTGCCCTCCCCG GRCh38
NC_000023.10:g.153607978_153608003delinsTCGCGACCTCCCCGCTGCCCTCCCCG , CM000685.1:g.153607978_153608003delinsTCGCGACCTCCCCGCTGCCCTCCCCG GRCh37
NC_000023.9:g.153261172_153261197delinsTCGCGACCTCCCCGCTGCCCTCCCCG NCBI36
NG_008677.1:g.10183_10208delinsTCGCGACCTCCCCGCTGCCCTCCCCG , LRG_745:g.10183_10208delinsTCGCGACCTCCCCGCTGCCCTCCCCG
NG_011506.1:g.4_29delinsCGGGGAGGGCAGCGGGGAGGTCGCGA

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.82+52_83-47delinsTCGCGACCTCCCCGCTGCCCTCCCCG ENSP00000507245.1:n.82+52_83-47delinsTCGC...
ENST00000682478.1:n.58+52_59-47delinsTCGCGACCTCCCCGCTGCCCTCCCCG
ENST00000683576.1:n.58+52_59-47delinsTCGCGACCTCCCCGCTGCCCTCCCCG
ENST00000683627.1:c.82+52_83-47delinsTCGCGACCTCCCCGCTGCCCTCCCCG ENSP00000507533.1:n.82+52_83-47delinsTCGC...
ENST00000684082.1:c.82+52_83-47delinsTCGCGACCTCCCCGCTGCCCTCCCCG ENSP00000508266.1:n.82+52_83-47delinsTCGC...
ENST00000684633.1:n.54+56_55-47delinsTCGCGACCTCCCCGCTGCCCTCCCCG
ENST00000684678.1:c.78+56_79-47delinsTCGCGACCTCCCCGCTGCCCTCCCCG ENSP00000507059.1:n.78+56_79-47delinsTCGC...
ENST00000369842.9:c.82+52_83-47delinsTCGCGACCTCCCCGCTGCCCTCCCCG MANE Select ENSP00000358857.4:n.82+52_83-47delinsTCGC...
ENST00000369835.3:c.82+52_82+77delinsTCGCGACCTCCCCGCTGCCCTCCCCG ENSP00000358850.3:n.82+52_82+77delinsTCGC...
ENST00000369842.8:c.82+52_83-47delinsTCGCGACCTCCCCGCTGCCCTCCCCG ENSP00000358857.4:n.82+52_83-47delinsTCGC...
ENST00000428228.5:c.54-72_54-47delinsTCGCGACCTCCCCGCTGCCCTCCCCG ENSP00000401081.1:n.54-72_54-47delinsTCGC...
ENST00000468294.5:n.42+52_43-47delinsTCGCGACCTCCCCGCTGCCCTCCCCG
ENST00000485261.1:n.163+52_163+77delinsTCGCGACCTCCCCGCTGCCCTCCCCG
ENST00000486738.5:n.226+52_227-47delinsTCGCGACCTCCCCGCTGCCCTCCCCG
ENST00000494443.5:n.139+52_140-47delinsTCGCGACCTCCCCGCTGCCCTCCCCG
NM_000117.2:c.82+52_83-47delinsTCGCGACCTCCCCGCTGCCCTCCCCG , LRG_745t1:c.82+52_83-47delinsTCGCGACCTCCCCGCTGCCCTCCCCG NP_000108.1:n.82+52_83-47delinsTCGCGACCTC...
XM_024452349.1:c.-127+52_-126-47delinsTCGCGACCTCCCCGCTGCCCTCCCCG XP_024308117.1:n.-127+52_-126-47delinsTCG...
NM_000117.3:c.82+52_83-47delinsTCGCGACCTCCCCGCTGCCCTCCCCG MANE Select NP_000108.1:n.82+52_83-47delinsTCGCGACCTC...