Canonical Allele Identifier: CA2740090146

Gene: EMD

Linked Data

• ClinVar Variation Id: 3024542
• ClinVar RCV Id: RCV003885427

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379506del , CM000685.2:g.154379506del	GRCh38
NC_000023.10:g.153607866del , CM000685.1:g.153607866del	GRCh37
NC_000023.9:g.153261060del	NCBI36
NG_008677.1:g.10071del , LRG_745:g.10071del
NG_011506.1:g.143del
NG_011506.2:g.135del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.22del	ENSP00000507245.1:p.Ser8ArgfsTer5
ENST00000683627.1:c.22del	ENSP00000507533.1:p.Ser8ArgfsTer5
ENST00000684082.1:c.22del	ENSP00000508266.1:p.Ser8ArgfsTer5
ENST00000684678.1:c.22del	ENSP00000507059.1:p.Ser8ArgfsTer5
ENST00000369842.9:c.22del MANE Select	ENSP00000358857.4:p.Ser8ArgfsTer5
ENST00000369835.3:c.22del	ENSP00000358850.3:p.Ser8ArgfsTer5
ENST00000369842.8:c.22del	ENSP00000358857.4:p.Ser8ArgfsTer5
ENST00000428228.5:c.22del	ENSP00000401081.1:p.Ser8ArgfsTer5
ENST00000485261.1:n.103del
ENST00000486738.5:n.166del
ENST00000494443.5:n.79del
NM_000117.2:c.22del , LRG_745t1:c.22del	NP_000108.1:p.Ser8ArgfsTer5
XM_024452349.1:c.-187del	XP_024308117.1:n.-187del
NM_000117.3:c.22del MANE Select	NP_000108.1:p.Ser8ArgfsTer5