Canonical Allele Identifier: CA2695237024

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381001_154381002del , CM000685.2:g.154381001_154381002del	GRCh38
NC_000023.10:g.153609361_153609362del , CM000685.1:g.153609361_153609362del	GRCh37
NC_000023.9:g.153262555_153262556del	NCBI36
NG_008677.1:g.11566_11567del , LRG_745:g.11566_11567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.569_570del	ENSP00000507245.1:p.Phe190TyrfsTer?
ENST00000682478.1:n.759_760del
ENST00000683576.1:n.759_760del
ENST00000683627.1:c.569_570del	ENSP00000507533.1:p.Phe190TyrfsTer19
ENST00000684082.1:c.526_527del	ENSP00000508266.1:n.526_527del
ENST00000684633.1:n.541_542del
ENST00000684678.1:c.565_566del	ENSP00000507059.1:n.565_566del
ENST00000369842.9:c.569_570del MANE Select	ENSP00000358857.4:p.Phe190TyrfsTer19
ENST00000369835.3:c.464_465del	ENSP00000358850.3:p.Phe155TyrfsTer19
ENST00000369842.8:c.569_570del	ENSP00000358857.4:p.Phe190TyrfsTer19
ENST00000428228.5:c.*474_*475del	ENSP00000401081.1:n.*474_*475del
ENST00000471965.1:n.358_359del
ENST00000486738.5:n.1006_1007del
ENST00000492448.1:n.552_553del
NM_000117.2:c.569_570del , LRG_745t1:c.569_570del	NP_000108.1:p.Phe190TyrfsTer19
XM_024452349.1:c.575_576del	XP_024308117.1:p.Phe192TyrfsTer19
NM_000117.3:c.569_570del MANE Select	NP_000108.1:p.Phe190TyrfsTer19