Canonical Allele Identifier: CA2579738461

Gene: EMD

Linked Data

• ClinVar Variation Id: 3013793
• ClinVar RCV Id: RCV003873368

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379778_154379780del , CM000685.2:g.154379778_154379780del	GRCh38
NC_000023.10:g.153608138_153608140del , CM000685.1:g.153608138_153608140del	GRCh37
NC_000023.9:g.153261332_153261334del	NCBI36
NG_008677.1:g.10343_10345del , LRG_745:g.10343_10345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.171_173del	ENSP00000507245.1:p.Ser58del
ENST00000682478.1:n.147_149del
ENST00000683576.1:n.147_149del
ENST00000683627.1:c.171_173del	ENSP00000507533.1:p.Ser58del
ENST00000684082.1:c.171_173del	ENSP00000508266.1:p.Ser58del
ENST00000684633.1:n.143_145del
ENST00000684678.1:c.167_169del	ENSP00000507059.1:p.Pro56del
ENST00000369842.9:c.171_173del MANE Select	ENSP00000358857.4:p.Ser58del
ENST00000369835.3:c.83-164_83-162del	ENSP00000358850.3:n.83-164_83-162del
ENST00000369842.8:c.171_173del	ENSP00000358857.4:p.Ser58del
ENST00000428228.5:c.*76_*78del	ENSP00000401081.1:n.*76_*78del
ENST00000468294.5:n.131_133del
ENST00000485261.1:n.164-164_164-162del
ENST00000486738.5:n.315_317del
ENST00000492448.1:n.154_156del
ENST00000494443.5:n.228_230del
NM_000117.2:c.171_173del , LRG_745t1:c.171_173del	NP_000108.1:p.Ser58del
XM_024452349.1:c.-38_-36del	XP_024308117.1:n.-38_-36del
NM_000117.3:c.171_173del MANE Select	NP_000108.1:p.Ser58del