Canonical Allele Identifier: CA3008789783

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379748dup , CM000685.2:g.154379748dup	GRCh38
NC_000023.10:g.153608108dup , CM000685.1:g.153608108dup	GRCh37
NC_000023.9:g.153261302dup	NCBI36
NG_008677.1:g.10313dup , LRG_745:g.10313dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.141dup	ENSP00000507245.1:p.Leu48AlafsTer13
ENST00000682478.1:n.117dup
ENST00000683576.1:n.117dup
ENST00000683627.1:c.141dup	ENSP00000507533.1:p.Leu48AlafsTer13
ENST00000684082.1:c.141dup	ENSP00000508266.1:p.Leu48AlafsTer13
ENST00000684633.1:n.113dup
ENST00000684678.1:c.137dup	ENSP00000507059.1:p.Ser47LeufsTer?
ENST00000369842.9:c.141dup MANE Select	ENSP00000358857.4:p.Leu48AlafsTer13
ENST00000369835.3:c.82+182dup	ENSP00000358850.3:n.82+182dup
ENST00000369842.8:c.141dup	ENSP00000358857.4:p.Leu48AlafsTer13
ENST00000428228.5:c.*46dup	ENSP00000401081.1:n.*46dup
ENST00000468294.5:n.101dup
ENST00000485261.1:n.163+182dup
ENST00000486738.5:n.285dup
ENST00000492448.1:n.124dup
ENST00000494443.5:n.198dup
NM_000117.2:c.141dup , LRG_745t1:c.141dup	NP_000108.1:p.Leu48AlafsTer13
XM_024452349.1:c.-68dup	XP_024308117.1:n.-68dup
NM_000117.3:c.141dup MANE Select	NP_000108.1:p.Leu48AlafsTer13