Canonical Allele Identifier: CA2739273889

Gene: EMD

Linked Data

• ClinVar Variation Id: 2858775
• ClinVar RCV Id: RCV003640346

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381075del , CM000685.2:g.154381075del	GRCh38
NC_000023.10:g.153609435del , CM000685.1:g.153609435del	GRCh37
NC_000023.9:g.153262629del	NCBI36
NG_008677.1:g.11640del , LRG_745:g.11640del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.572+71del	ENSP00000507245.1:n.572+71del
ENST00000682478.1:n.762+71del
ENST00000683576.1:n.833del
ENST00000683627.1:c.643del	ENSP00000507533.1:p.Ala215LeufsTer22
ENST00000684082.1:c.600del	ENSP00000508266.1:n.600del
ENST00000684633.1:n.615del
ENST00000684678.1:c.568+71del	ENSP00000507059.1:n.568+71del
ENST00000369842.9:c.643del MANE Select	ENSP00000358857.4:p.Ala215LeufsTer22
ENST00000369835.3:c.538del	ENSP00000358850.3:p.Ala180LeufsTer22
ENST00000369842.8:c.643del	ENSP00000358857.4:p.Ala215LeufsTer22
ENST00000428228.5:c.*548del	ENSP00000401081.1:n.*548del
ENST00000471965.1:n.432del
ENST00000486738.5:n.1080del
ENST00000492448.1:n.626del
NM_000117.2:c.643del , LRG_745t1:c.643del	NP_000108.1:p.Ala215LeufsTer22
XM_024452349.1:c.649del	XP_024308117.1:p.Ala217LeufsTer22
NM_000117.3:c.643del MANE Select	NP_000108.1:p.Ala215LeufsTer22