Canonical Allele Identifier: CA2580101773

Gene: EMD

Linked Data

• ClinVar Variation Id: 2032371
• ClinVar RCV Id: RCV002899074 ; RCV003492783

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381106del , CM000685.2:g.154381106del	GRCh38
NC_000023.10:g.153609466del , CM000685.1:g.153609466del	GRCh37
NC_000023.9:g.153262660del	NCBI36
NG_008677.1:g.11671del , LRG_745:g.11671del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+102del	ENSP00000507245.1:n.572+102del
ENST00000682478.1:n.762+102del
ENST00000683576.1:n.864del
ENST00000683627.1:c.674del	ENSP00000507533.1:p.Leu225ProfsTer12
ENST00000684082.1:c.631del	ENSP00000508266.1:n.631del
ENST00000684633.1:n.646del
ENST00000684678.1:c.568+102del	ENSP00000507059.1:n.568+102del
ENST00000369842.9:c.674del MANE Select	ENSP00000358857.4:p.Leu225ProfsTer12
ENST00000369835.3:c.569del	ENSP00000358850.3:p.Leu190ProfsTer12
ENST00000369842.8:c.674del	ENSP00000358857.4:p.Leu225ProfsTer12
ENST00000428228.5:c.*579del	ENSP00000401081.1:n.*579del
ENST00000471965.1:n.463del
ENST00000486738.5:n.1111del
ENST00000492448.1:n.657del
NM_000117.2:c.674del , LRG_745t1:c.674del	NP_000108.1:p.Leu225ProfsTer12
XM_024452349.1:c.680del	XP_024308117.1:p.Leu227ProfsTer12
NM_000117.3:c.674del MANE Select	NP_000108.1:p.Leu225ProfsTer12