Canonical Allele Identifier: CA2695237007

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379993_154379994del , CM000685.2:g.154379993_154379994del	GRCh38
NC_000023.10:g.153608353_153608354del , CM000685.1:g.153608353_153608354del	GRCh37
NC_000023.9:g.153261547_153261548del	NCBI36
NG_008677.1:g.10558_10559del , LRG_745:g.10558_10559del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.239_240del	ENSP00000507245.1:p.Glu80GlyfsTer12
ENST00000682478.1:n.215_216del
ENST00000683576.1:n.215_216del
ENST00000683627.1:c.239_240del	ENSP00000507533.1:p.Glu80GlyfsTer12
ENST00000684082.1:c.239_240del	ENSP00000508266.1:p.Glu80GlyfsTer?
ENST00000684633.1:n.211_212del
ENST00000684678.1:c.235_236del	ENSP00000507059.1:n.235_236del
ENST00000369842.9:c.239_240del MANE Select	ENSP00000358857.4:p.Glu80GlyfsTer12
ENST00000369835.3:c.134_135del	ENSP00000358850.3:p.Glu45GlyfsTer12
ENST00000369842.8:c.239_240del	ENSP00000358857.4:p.Glu80GlyfsTer12
ENST00000428228.5:c.*144_*145del	ENSP00000401081.1:n.*144_*145del
ENST00000468294.5:n.199_200del
ENST00000485261.1:n.215_216del
ENST00000486738.5:n.383_384del
ENST00000492448.1:n.222_223del
ENST00000494443.5:n.296_297del
NM_000117.2:c.239_240del , LRG_745t1:c.239_240del	NP_000108.1:p.Glu80GlyfsTer12
XM_024452349.1:c.31_32del	XP_024308117.1:p.Arg11AspfsTer?
NM_000117.3:c.239_240del MANE Select	NP_000108.1:p.Glu80GlyfsTer12