Canonical Allele Identifier: CA2579738468

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379782del , CM000685.2:g.154379782del	GRCh38
NC_000023.10:g.153608142del , CM000685.1:g.153608142del	GRCh37
NC_000023.9:g.153261336del	NCBI36
NG_008677.1:g.10347del , LRG_745:g.10347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.175del	ENSP00000507245.1:p.Tyr59IlefsTer6
ENST00000682478.1:n.151del
ENST00000683576.1:n.151del
ENST00000683627.1:c.175del	ENSP00000507533.1:p.Tyr59IlefsTer6
ENST00000684082.1:c.175del	ENSP00000508266.1:p.Tyr59IlefsTer6
ENST00000684633.1:n.147del
ENST00000684678.1:c.171del	ENSP00000507059.1:p.Ile58Ter
ENST00000369842.9:c.175del MANE Select	ENSP00000358857.4:p.Tyr59IlefsTer6
ENST00000369835.3:c.83-160del	ENSP00000358850.3:n.83-160del
ENST00000369842.8:c.175del	ENSP00000358857.4:p.Tyr59IlefsTer6
ENST00000428228.5:c.*80del	ENSP00000401081.1:n.*80del
ENST00000468294.5:n.135del
ENST00000485261.1:n.164-160del
ENST00000486738.5:n.319del
ENST00000492448.1:n.158del
ENST00000494443.5:n.232del
NM_000117.2:c.175del , LRG_745t1:c.175del	NP_000108.1:p.Tyr59IlefsTer6
XM_024452349.1:c.-34del	XP_024308117.1:n.-34del
NM_000117.3:c.175del MANE Select	NP_000108.1:p.Tyr59IlefsTer6