Canonical Allele Identifier: CA2695236997

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379740dup , CM000685.2:g.154379740dup	GRCh38
NC_000023.10:g.153608100dup , CM000685.1:g.153608100dup	GRCh37
NC_000023.9:g.153261294dup	NCBI36
NG_008677.1:g.10305dup , LRG_745:g.10305dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.133dup	ENSP00000507245.1:p.Arg45LysfsTer16
ENST00000682478.1:n.109dup
ENST00000683576.1:n.109dup
ENST00000683627.1:c.133dup	ENSP00000507533.1:p.Arg45LysfsTer16
ENST00000684082.1:c.133dup	ENSP00000508266.1:p.Arg45LysfsTer16
ENST00000684633.1:n.105dup
ENST00000684678.1:c.129dup	ENSP00000507059.1:p.Gly44ArgfsTer?
ENST00000369842.9:c.133dup MANE Select	ENSP00000358857.4:p.Arg45LysfsTer16
ENST00000369835.3:c.82+174dup	ENSP00000358850.3:n.82+174dup
ENST00000369842.8:c.133dup	ENSP00000358857.4:p.Arg45LysfsTer16
ENST00000428228.5:c.*38dup	ENSP00000401081.1:n.*38dup
ENST00000468294.5:n.93dup
ENST00000485261.1:n.163+174dup
ENST00000486738.5:n.277dup
ENST00000492448.1:n.116dup
ENST00000494443.5:n.190dup
NM_000117.2:c.133dup , LRG_745t1:c.133dup	NP_000108.1:p.Arg45LysfsTer16
XM_024452349.1:c.-76dup	XP_024308117.1:n.-76dup
NM_000117.3:c.133dup MANE Select	NP_000108.1:p.Arg45LysfsTer16