Canonical Allele Identifier: CA2695237016

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380768del , CM000685.2:g.154380768del	GRCh38
NC_000023.10:g.153609128del , CM000685.1:g.153609128del	GRCh37
NC_000023.9:g.153262322del	NCBI36
NG_008677.1:g.11333del , LRG_745:g.11333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.415del	ENSP00000507245.1:p.Leu139PhefsTer?
ENST00000682478.1:n.605del
ENST00000683576.1:n.605del
ENST00000683627.1:c.415del	ENSP00000507533.1:p.Leu139PhefsTer?
ENST00000684082.1:c.372del	ENSP00000508266.1:n.372del
ENST00000684633.1:n.387del
ENST00000684678.1:c.411del	ENSP00000507059.1:n.411del
ENST00000369842.9:c.415del MANE Select	ENSP00000358857.4:p.Leu139PhefsTer?
ENST00000369835.3:c.310del	ENSP00000358850.3:p.Leu104PhefsTer?
ENST00000369842.8:c.415del	ENSP00000358857.4:p.Leu139PhefsTer?
ENST00000428228.5:c.*320del	ENSP00000401081.1:n.*320del
ENST00000468294.5:n.375del
ENST00000471965.1:n.204del
ENST00000485261.1:n.605del
ENST00000486738.5:n.773del
ENST00000492448.1:n.398del
NM_000117.2:c.415del , LRG_745t1:c.415del	NP_000108.1:p.Leu139PhefsTer?
XM_024452349.1:c.421del	XP_024308117.1:p.Leu141PhefsTer?
NM_000117.3:c.415del MANE Select	NP_000108.1:p.Leu139PhefsTer?