Canonical Allele Identifier: CA2695237004

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379793dup , CM000685.2:g.154379793dup	GRCh38
NC_000023.10:g.153608153dup , CM000685.1:g.153608153dup	GRCh37
NC_000023.9:g.153261347dup	NCBI36
NG_008677.1:g.10358dup , LRG_745:g.10358dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.186dup	ENSP00000507245.1:p.Asp63Ter
ENST00000682478.1:n.162dup
ENST00000683576.1:n.162dup
ENST00000683627.1:c.186dup	ENSP00000507533.1:p.Asp63Ter
ENST00000684082.1:c.186dup	ENSP00000508266.1:p.Asp63Ter
ENST00000684633.1:n.158dup
ENST00000684678.1:c.182dup	ENSP00000507059.1:p.Thr62AspfsTer?
ENST00000369842.9:c.186dup MANE Select	ENSP00000358857.4:p.Asp63Ter
ENST00000369835.3:c.83-149dup	ENSP00000358850.3:n.83-149dup
ENST00000369842.8:c.186dup	ENSP00000358857.4:p.Asp63Ter
ENST00000428228.5:c.*91dup	ENSP00000401081.1:n.*91dup
ENST00000468294.5:n.146dup
ENST00000485261.1:n.164-149dup
ENST00000486738.5:n.330dup
ENST00000492448.1:n.169dup
ENST00000494443.5:n.243dup
NM_000117.2:c.186dup , LRG_745t1:c.186dup	NP_000108.1:p.Asp63Ter
XM_024452349.1:c.-23dup	XP_024308117.1:n.-23dup
NM_000117.3:c.186dup MANE Select	NP_000108.1:p.Asp63Ter