Canonical Allele Identifier: CA2580101796

Gene: EMD

Linked Data

• ClinVar Variation Id: 2004287
• ClinVar RCV Id: RCV002815994

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379563del , CM000685.2:g.154379563del	GRCh38
NC_000023.10:g.153607923del , CM000685.1:g.153607923del	GRCh37
NC_000023.9:g.153261117del	NCBI36
NG_008677.1:g.10128del , LRG_745:g.10128del
NG_011506.1:g.84del
NG_011506.2:g.76del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.79del	ENSP00000507245.1:p.Val27Ter
ENST00000682478.1:n.55del
ENST00000683576.1:n.55del
ENST00000683627.1:c.79del	ENSP00000507533.1:p.Val27Ter
ENST00000684082.1:c.79del	ENSP00000508266.1:p.Val27Ter
ENST00000684633.1:n.54+1del
ENST00000684678.1:c.78+1del	ENSP00000507059.1:n.78+1del
ENST00000369842.9:c.79del MANE Select	ENSP00000358857.4:p.Val27Ter
ENST00000369835.3:c.79del	ENSP00000358850.3:p.Val27Ter
ENST00000369842.8:c.79del	ENSP00000358857.4:p.Val27Ter
ENST00000428228.5:c.53+26del	ENSP00000401081.1:n.53+26del
ENST00000468294.5:n.39del
ENST00000485261.1:n.160del
ENST00000486738.5:n.223del
ENST00000494443.5:n.136del
NM_000117.2:c.79del , LRG_745t1:c.79del	NP_000108.1:p.Val27Ter
XM_024452349.1:c.-130del	XP_024308117.1:n.-130del
NM_000117.3:c.79del MANE Select	NP_000108.1:p.Val27Ter