Canonical Allele Identifier: CA2695237008

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380007dup , CM000685.2:g.154380007dup	GRCh38
NC_000023.10:g.153608367dup , CM000685.1:g.153608367dup	GRCh37
NC_000023.9:g.153261561dup	NCBI36
NG_008677.1:g.10572dup , LRG_745:g.10572dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.253dup	ENSP00000507245.1:p.Tyr85LeufsTer8
ENST00000682478.1:n.229dup
ENST00000683576.1:n.229dup
ENST00000683627.1:c.253dup	ENSP00000507533.1:p.Tyr85LeufsTer8
ENST00000684082.1:c.253dup	ENSP00000508266.1:p.Tyr85LeufsTer?
ENST00000684633.1:n.225dup
ENST00000684678.1:c.249dup	ENSP00000507059.1:n.249dup
ENST00000369842.9:c.253dup MANE Select	ENSP00000358857.4:p.Tyr85LeufsTer8
ENST00000369835.3:c.148dup	ENSP00000358850.3:p.Tyr50LeufsTer8
ENST00000369842.8:c.253dup	ENSP00000358857.4:p.Tyr85LeufsTer8
ENST00000428228.5:c.*158dup	ENSP00000401081.1:n.*158dup
ENST00000468294.5:n.213dup
ENST00000485261.1:n.229dup
ENST00000486738.5:n.397dup
ENST00000492448.1:n.236dup
ENST00000494443.5:n.310dup
NM_000117.2:c.253dup , LRG_745t1:c.253dup	NP_000108.1:p.Tyr85LeufsTer8
XM_024452349.1:c.45dup	XP_024308117.1:p.Thr16TyrfsTer30
NM_000117.3:c.253dup MANE Select	NP_000108.1:p.Tyr85LeufsTer8