Canonical Allele Identifier: CA2824296166

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379962del , CM000685.2:g.154379962del	GRCh38
NC_000023.10:g.153608322del , CM000685.1:g.153608322del	GRCh37
NC_000023.9:g.153261516del	NCBI36
NG_008677.1:g.10527del , LRG_745:g.10527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.208del	ENSP00000507245.1:p.Asp70MetfsTer?
ENST00000682478.1:n.184del
ENST00000683576.1:n.184del
ENST00000683627.1:c.208del	ENSP00000507533.1:p.Asp70MetfsTer?
ENST00000684082.1:c.208del	ENSP00000508266.1:p.Asp70MetfsTer?
ENST00000684633.1:n.180del
ENST00000684678.1:c.204del	ENSP00000507059.1:n.204del
ENST00000369842.9:c.208del MANE Select	ENSP00000358857.4:p.Asp70MetfsTer?
ENST00000369835.3:c.103del	ENSP00000358850.3:p.Asp35MetfsTer?
ENST00000369842.8:c.208del	ENSP00000358857.4:p.Asp70MetfsTer?
ENST00000428228.5:c.*113del	ENSP00000401081.1:n.*113del
ENST00000468294.5:n.168del
ENST00000485261.1:n.184del
ENST00000486738.5:n.352del
ENST00000492448.1:n.191del
ENST00000494443.5:n.265del
NM_000117.2:c.208del , LRG_745t1:c.208del	NP_000108.1:p.Asp70MetfsTer?
XM_024452349.1:c.-1del	XP_024308117.1:n.-1del
NM_000117.3:c.208del MANE Select	NP_000108.1:p.Asp70MetfsTer?