Canonical Allele Identifier: CA2466663755

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379567_154379587delinsGTACGCGGCGGCGGGCGGGAC , CM000685.2:g.154379567_154379587delinsGTACGCGGCGGCGGGCGGGAC	GRCh38
NC_000023.10:g.153607927_153607947delinsGTACGCGGCGGCGGGCGGGAC , CM000685.1:g.153607927_153607947delinsGTACGCGGCGGCGGGCGGGAC	GRCh37
NC_000023.9:g.153261121_153261141delinsGTACGCGGCGGCGGGCGGGAC	NCBI36
NG_008677.1:g.10132_10152delinsGTACGCGGCGGCGGGCGGGAC , LRG_745:g.10132_10152delinsGTACGCGGCGGCGGGCGGGAC
NG_011506.1:g.60_80delinsGTCCCGCCCGCCGCCGCGTAC
NG_011506.2:g.52_72delinsGTCCCGCCCGCCGCCGCGTAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.82+1_82+21delinsGTACGCGGCGGCGGGCGGGAC	ENSP00000507245.1:n.82+1_82+21delinsGTACG...
ENST00000682478.1:n.58+1_58+21delinsGTACGCGGCGGCGGGCGGGAC
ENST00000683576.1:n.58+1_58+21delinsGTACGCGGCGGCGGGCGGGAC
ENST00000683627.1:c.82+1_82+21delinsGTACGCGGCGGCGGGCGGGAC	ENSP00000507533.1:n.82+1_82+21delinsGTACG...
ENST00000684082.1:c.82+1_82+21delinsGTACGCGGCGGCGGGCGGGAC	ENSP00000508266.1:n.82+1_82+21delinsGTACG...
ENST00000684633.1:n.54+5_54+25delinsGTACGCGGCGGCGGGCGGGAC
ENST00000684678.1:c.78+5_78+25delinsGTACGCGGCGGCGGGCGGGAC	ENSP00000507059.1:n.78+5_78+25delinsGTACG...
ENST00000369842.9:c.82+1_82+21delinsGTACGCGGCGGCGGGCGGGAC MANE Select	ENSP00000358857.4:n.82+1_82+21delinsGTACG...
ENST00000369835.3:c.82+1_82+21delinsGTACGCGGCGGCGGGCGGGAC	ENSP00000358850.3:n.82+1_82+21delinsGTACG...
ENST00000369842.8:c.82+1_82+21delinsGTACGCGGCGGCGGGCGGGAC	ENSP00000358857.4:n.82+1_82+21delinsGTACG...
ENST00000428228.5:c.53+30_53+50delinsGTACGCGGCGGCGGGCGGGAC	ENSP00000401081.1:n.53+30_53+50delinsGTAC...
ENST00000468294.5:n.42+1_42+21delinsGTACGCGGCGGCGGGCGGGAC
ENST00000485261.1:n.163+1_163+21delinsGTACGCGGCGGCGGGCGGGAC
ENST00000486738.5:n.226+1_226+21delinsGTACGCGGCGGCGGGCGGGAC
ENST00000494443.5:n.139+1_139+21delinsGTACGCGGCGGCGGGCGGGAC
NM_000117.2:c.82+1_82+21delinsGTACGCGGCGGCGGGCGGGAC , LRG_745t1:c.82+1_82+21delinsGTACGCGGCGGCGGGCGGGAC	NP_000108.1:n.82+1_82+21delinsGTACGCGGCGG...
XM_024452349.1:c.-127+1_-127+21delinsGTACGCGGCGGCGGGCGGGAC	XP_024308117.1:n.-127+1_-127+21delinsGTAC...
NM_000117.3:c.82+1_82+21delinsGTACGCGGCGGCGGGCGGGAC MANE Select	NP_000108.1:n.82+1_82+21delinsGTACGCGGCGG...