Canonical Allele Identifier: CA2695236996

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379707del , CM000685.2:g.154379707del	GRCh38
NC_000023.10:g.153608067del , CM000685.1:g.153608067del	GRCh37
NC_000023.9:g.153261261del	NCBI36
NG_008677.1:g.10272del , LRG_745:g.10272del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.100del	ENSP00000507245.1:p.Tyr34ThrfsTer?
ENST00000682478.1:n.76del
ENST00000683576.1:n.76del
ENST00000683627.1:c.100del	ENSP00000507533.1:p.Tyr34ThrfsTer?
ENST00000684082.1:c.100del	ENSP00000508266.1:p.Tyr34ThrfsTer?
ENST00000684633.1:n.72del
ENST00000684678.1:c.96del	ENSP00000507059.1:p.Phe32LeufsTer27
ENST00000369842.9:c.100del MANE Select	ENSP00000358857.4:p.Tyr34ThrfsTer?
ENST00000369835.3:c.82+141del	ENSP00000358850.3:n.82+141del
ENST00000369842.8:c.100del	ENSP00000358857.4:p.Tyr34ThrfsTer?
ENST00000428228.5:c.*5del	ENSP00000401081.1:n.*5del
ENST00000468294.5:n.60del
ENST00000485261.1:n.163+141del
ENST00000486738.5:n.244del
ENST00000492448.1:n.83del
ENST00000494443.5:n.157del
NM_000117.2:c.100del , LRG_745t1:c.100del	NP_000108.1:p.Tyr34ThrfsTer?
XM_024452349.1:c.-109del	XP_024308117.1:n.-109del
NM_000117.3:c.100del MANE Select	NP_000108.1:p.Tyr34ThrfsTer?