Canonical Allele Identifier: CA2695237005

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379951del , CM000685.2:g.154379951del	GRCh38
NC_000023.10:g.153608311del , CM000685.1:g.153608311del	GRCh37
NC_000023.9:g.153261505del	NCBI36
NG_008677.1:g.10516del , LRG_745:g.10516del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.197del	ENSP00000507245.1:p.Ser66Ter
ENST00000682478.1:n.173del
ENST00000683576.1:n.173del
ENST00000683627.1:c.197del	ENSP00000507533.1:p.Ser66Ter
ENST00000684082.1:c.197del	ENSP00000508266.1:p.Ser66Ter
ENST00000684633.1:n.169del
ENST00000684678.1:c.193del	ENSP00000507059.1:n.193del
ENST00000369842.9:c.197del MANE Select	ENSP00000358857.4:p.Ser66Ter
ENST00000369835.3:c.92del	ENSP00000358850.3:p.Ser31Ter
ENST00000369842.8:c.197del	ENSP00000358857.4:p.Ser66Ter
ENST00000428228.5:c.*102del	ENSP00000401081.1:n.*102del
ENST00000468294.5:n.157del
ENST00000485261.1:n.173del
ENST00000486738.5:n.341del
ENST00000492448.1:n.180del
ENST00000494443.5:n.254del
NM_000117.2:c.197del , LRG_745t1:c.197del	NP_000108.1:p.Ser66Ter
XM_024452349.1:c.-12del	XP_024308117.1:n.-12del
NM_000117.3:c.197del MANE Select	NP_000108.1:p.Ser66Ter