Canonical Allele Identifier: CA2695236989
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379509dup , CM000685.2:g.154379509dup GRCh38
NC_000023.10:g.153607869dup , CM000685.1:g.153607869dup GRCh37
NC_000023.9:g.153261063dup NCBI36
NG_008677.1:g.10074dup , LRG_745:g.10074dup
NG_011506.1:g.139dup
NG_011506.2:g.131dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.25dup ENSP00000507245.1:p.Asp9GlyfsTer24
ENST00000683627.1:c.25dup ENSP00000507533.1:p.Asp9GlyfsTer24
ENST00000684082.1:c.25dup ENSP00000508266.1:p.Asp9GlyfsTer24
ENST00000684678.1:c.25dup ENSP00000507059.1:p.Asp9GlyfsTer?
ENST00000369842.9:c.25dup MANE Select ENSP00000358857.4:p.Asp9GlyfsTer24
ENST00000369835.3:c.25dup ENSP00000358850.3:p.Asp9GlyfsTer25
ENST00000369842.8:c.25dup ENSP00000358857.4:p.Asp9GlyfsTer24
ENST00000428228.5:c.25dup ENSP00000401081.1:p.Asp9GlyfsTer?
ENST00000485261.1:n.106dup
ENST00000486738.5:n.169dup
ENST00000494443.5:n.82dup
NM_000117.2:c.25dup , LRG_745t1:c.25dup NP_000108.1:p.Asp9GlyfsTer24
XM_024452349.1:c.-184dup XP_024308117.1:n.-184dup
NM_000117.3:c.25dup MANE Select NP_000108.1:p.Asp9GlyfsTer24