Canonical Allele Identifier: CA2695237000

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379753dup , CM000685.2:g.154379753dup	GRCh38
NC_000023.10:g.153608113dup , CM000685.1:g.153608113dup	GRCh37
NC_000023.9:g.153261307dup	NCBI36
NG_008677.1:g.10318dup , LRG_745:g.10318dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.146dup	ENSP00000507245.1:p.Pro50AlafsTer11
ENST00000682478.1:n.122dup
ENST00000683576.1:n.122dup
ENST00000683627.1:c.146dup	ENSP00000507533.1:p.Pro50AlafsTer11
ENST00000684082.1:c.146dup	ENSP00000508266.1:p.Pro50AlafsTer11
ENST00000684633.1:n.118dup
ENST00000684678.1:c.142dup	ENSP00000507059.1:p.Arg48ProfsTer?
ENST00000369842.9:c.146dup MANE Select	ENSP00000358857.4:p.Pro50AlafsTer11
ENST00000369835.3:c.82+187dup	ENSP00000358850.3:n.82+187dup
ENST00000369842.8:c.146dup	ENSP00000358857.4:p.Pro50AlafsTer11
ENST00000428228.5:c.*51dup	ENSP00000401081.1:n.*51dup
ENST00000468294.5:n.106dup
ENST00000485261.1:n.163+187dup
ENST00000486738.5:n.290dup
ENST00000492448.1:n.129dup
ENST00000494443.5:n.203dup
NM_000117.2:c.146dup , LRG_745t1:c.146dup	NP_000108.1:p.Pro50AlafsTer11
XM_024452349.1:c.-63dup	XP_024308117.1:n.-63dup
NM_000117.3:c.146dup MANE Select	NP_000108.1:p.Pro50AlafsTer11