Canonical Allele Identifier: CA2697544774

Gene: EMD

Linked Data

• ClinVar Variation Id: 2716920
• ClinVar RCV Id: RCV003522201

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379750dup , CM000685.2:g.154379750dup	GRCh38
NC_000023.10:g.153608110dup , CM000685.1:g.153608110dup	GRCh37
NC_000023.9:g.153261304dup	NCBI36
NG_008677.1:g.10315dup , LRG_745:g.10315dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.143dup	ENSP00000507245.1:p.Ser49LeufsTer12
ENST00000682478.1:n.119dup
ENST00000683576.1:n.119dup
ENST00000683627.1:c.143dup	ENSP00000507533.1:p.Ser49LeufsTer12
ENST00000684082.1:c.143dup	ENSP00000508266.1:p.Ser49LeufsTer12
ENST00000684633.1:n.115dup
ENST00000684678.1:c.139dup	ENSP00000507059.1:p.Ser47PhefsTer?
ENST00000369842.9:c.143dup MANE Select	ENSP00000358857.4:p.Ser49LeufsTer12
ENST00000369835.3:c.82+184dup	ENSP00000358850.3:n.82+184dup
ENST00000369842.8:c.143dup	ENSP00000358857.4:p.Ser49LeufsTer12
ENST00000428228.5:c.*48dup	ENSP00000401081.1:n.*48dup
ENST00000468294.5:n.103dup
ENST00000485261.1:n.163+184dup
ENST00000486738.5:n.287dup
ENST00000492448.1:n.126dup
ENST00000494443.5:n.200dup
NM_000117.2:c.143dup , LRG_745t1:c.143dup	NP_000108.1:p.Ser49LeufsTer12
XM_024452349.1:c.-66dup	XP_024308117.1:n.-66dup
NM_000117.3:c.143dup MANE Select	NP_000108.1:p.Ser49LeufsTer12