Canonical Allele Identifier: CA913191226

Gene: EMD

Linked Data

• ClinVar Variation Id: 617592
• ClinVar RCV Id: RCV000754753
• dbSNP Id: rs1569552076

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379500del , CM000685.2:g.154379500del	GRCh38
NC_000023.10:g.153607860del , CM000685.1:g.153607860del	GRCh37
NC_000023.9:g.153261054del	NCBI36
NG_008677.1:g.10065del , LRG_745:g.10065del
NG_011506.1:g.147del
NG_011506.2:g.139del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.16del	ENSP00000507245.1:p.Asp6IlefsTer7
ENST00000683627.1:c.16del	ENSP00000507533.1:p.Asp6IlefsTer7
ENST00000684082.1:c.16del	ENSP00000508266.1:p.Asp6IlefsTer7
ENST00000684678.1:c.16del	ENSP00000507059.1:p.Asp6IlefsTer7
ENST00000369842.9:c.16del MANE Select	ENSP00000358857.4:p.Asp6IlefsTer7
ENST00000369835.3:c.16del	ENSP00000358850.3:p.Asp6IlefsTer7
ENST00000369842.8:c.16del	ENSP00000358857.4:p.Asp6IlefsTer7
ENST00000428228.5:c.16del	ENSP00000401081.1:p.Asp6IlefsTer7
ENST00000485261.1:n.97del
ENST00000486738.5:n.160del
ENST00000494443.5:n.73del
NM_000117.2:c.16del , LRG_745t1:c.16del	NP_000108.1:p.Asp6IlefsTer7
XM_024452349.1:c.-193del	XP_024308117.1:n.-193del
NM_000117.3:c.16del MANE Select	NP_000108.1:p.Asp6IlefsTer7