Canonical Allele Identifier: CA2695236995

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379706_154379764del , CM000685.2:g.154379706_154379764del	GRCh38
NC_000023.10:g.153608066_153608124del , CM000685.1:g.153608066_153608124del	GRCh37
NC_000023.9:g.153261260_153261318del	NCBI36
NG_008677.1:g.10271_10329del , LRG_745:g.10271_10329del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.99_157del	ENSP00000507245.1:p.Tyr34ValfsTer7
ENST00000682478.1:n.75_133del
ENST00000683576.1:n.75_133del
ENST00000683627.1:c.99_157del	ENSP00000507533.1:p.Tyr34ValfsTer7
ENST00000684082.1:c.99_157del	ENSP00000508266.1:p.Tyr34ValfsTer7
ENST00000684633.1:n.71_129del
ENST00000684678.1:c.95_153del	ENSP00000507059.1:p.Phe32SerfsTer?
ENST00000369842.9:c.99_157del MANE Select	ENSP00000358857.4:p.Tyr34ValfsTer7
ENST00000369835.3:c.82+140_83-178del	ENSP00000358850.3:n.82+140_83-178del
ENST00000369842.8:c.99_157del	ENSP00000358857.4:p.Tyr34ValfsTer7
ENST00000428228.5:c.*4_*62del	ENSP00000401081.1:n.*4_*62del
ENST00000468294.5:n.59_117del
ENST00000485261.1:n.163+140_164-178del
ENST00000486738.5:n.243_301del
ENST00000492448.1:n.82_140del
ENST00000494443.5:n.156_214del
NM_000117.2:c.99_157del , LRG_745t1:c.99_157del	NP_000108.1:p.Tyr34ValfsTer7
XM_024452349.1:c.-110_-52del	XP_024308117.1:n.-110_-52del
NM_000117.3:c.99_157del MANE Select	NP_000108.1:p.Tyr34ValfsTer7