Canonical Allele Identifier: CA2573159415

Gene: EMD

Linked Data

• ClinVar Variation Id: 1456997
• ClinVar RCV Id: RCV001972522
• dbSNP Id: rs2148128871

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381002del , CM000685.2:g.154381002del	GRCh38
NC_000023.10:g.153609362del , CM000685.1:g.153609362del	GRCh37
NC_000023.9:g.153262556del	NCBI36
NG_008677.1:g.11567del , LRG_745:g.11567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.570del	ENSP00000507245.1:p.Phe190LeufsTer12
ENST00000682478.1:n.760del
ENST00000683576.1:n.760del
ENST00000683627.1:c.570del	ENSP00000507533.1:p.Phe190LeufsTer?
ENST00000684082.1:c.527del	ENSP00000508266.1:n.527del
ENST00000684633.1:n.542del
ENST00000684678.1:c.566del	ENSP00000507059.1:n.566del
ENST00000369842.9:c.570del MANE Select	ENSP00000358857.4:p.Phe190LeufsTer?
ENST00000369835.3:c.465del	ENSP00000358850.3:p.Phe155LeufsTer?
ENST00000369842.8:c.570del	ENSP00000358857.4:p.Phe190LeufsTer?
ENST00000428228.5:c.*475del	ENSP00000401081.1:n.*475del
ENST00000471965.1:n.359del
ENST00000486738.5:n.1007del
ENST00000492448.1:n.553del
NM_000117.2:c.570del , LRG_745t1:c.570del	NP_000108.1:p.Phe190LeufsTer?
XM_024452349.1:c.576del	XP_024308117.1:p.Phe192LeufsTer?
NM_000117.3:c.570del MANE Select	NP_000108.1:p.Phe190LeufsTer?