Canonical Allele Identifier: CA519277906

Gene: EMD

Linked Data

• ClinVar Variation Id: 1074960
• ClinVar RCV Id: RCV001388437
• dbSNP Id: rs876661345
• COSMIC: COSM391242
• MyVariant Identifiers: chrX:g.153608115del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379760del , CM000685.2:g.154379760del	GRCh38
NC_000023.10:g.153608120del , CM000685.1:g.153608120del	GRCh37
NC_000023.9:g.153261314del	NCBI36
NG_008677.1:g.10325del , LRG_745:g.10325del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.153del	ENSP00000507245.1:p.Ser52AlafsTer13
ENST00000682478.1:n.129del
ENST00000683576.1:n.129del
ENST00000683627.1:c.153del	ENSP00000507533.1:p.Ser52AlafsTer13
ENST00000684082.1:c.153del	ENSP00000508266.1:p.Ser52AlafsTer13
ENST00000684633.1:n.125del
ENST00000684678.1:c.149del	ENSP00000507059.1:p.Pro50GlnfsTer9
ENST00000369842.9:c.153del MANE Select	ENSP00000358857.4:p.Ser52AlafsTer13
ENST00000369835.3:c.83-182del	ENSP00000358850.3:n.83-182del
ENST00000369842.8:c.153del	ENSP00000358857.4:p.Ser52AlafsTer13
ENST00000428228.5:c.*58del	ENSP00000401081.1:n.*58del
ENST00000468294.5:n.113del
ENST00000485261.1:n.164-182del
ENST00000486738.5:n.297del
ENST00000492448.1:n.136del
ENST00000494443.5:n.210del
NM_000117.2:c.153del , LRG_745t1:c.153del	NP_000108.1:p.Ser52AlafsTer13
XM_024452349.1:c.-56del	XP_024308117.1:n.-56del
NM_000117.3:c.153del MANE Select	NP_000108.1:p.Ser52AlafsTer13