Canonical Allele Identifier: CA2695237001

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379772del , CM000685.2:g.154379772del	GRCh38
NC_000023.10:g.153608132del , CM000685.1:g.153608132del	GRCh37
NC_000023.9:g.153261326del	NCBI36
NG_008677.1:g.10337del , LRG_745:g.10337del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.165del	ENSP00000507245.1:p.Ala56ProfsTer9
ENST00000682478.1:n.141del
ENST00000683576.1:n.141del
ENST00000683627.1:c.165del	ENSP00000507533.1:p.Ala56ProfsTer9
ENST00000684082.1:c.165del	ENSP00000508266.1:p.Ala56ProfsTer9
ENST00000684633.1:n.137del
ENST00000684678.1:c.161del	ENSP00000507059.1:p.Pro54ArgfsTer5
ENST00000369842.9:c.165del MANE Select	ENSP00000358857.4:p.Ala56ProfsTer9
ENST00000369835.3:c.83-170del	ENSP00000358850.3:n.83-170del
ENST00000369842.8:c.165del	ENSP00000358857.4:p.Ala56ProfsTer9
ENST00000428228.5:c.*70del	ENSP00000401081.1:n.*70del
ENST00000468294.5:n.125del
ENST00000485261.1:n.164-170del
ENST00000486738.5:n.309del
ENST00000492448.1:n.148del
ENST00000494443.5:n.222del
NM_000117.2:c.165del , LRG_745t1:c.165del	NP_000108.1:p.Ala56ProfsTer9
XM_024452349.1:c.-44del	XP_024308117.1:n.-44del
NM_000117.3:c.165del MANE Select	NP_000108.1:p.Ala56ProfsTer9