Canonical Allele Identifier: CA2695236998

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379745_154379770del , CM000685.2:g.154379745_154379770del	GRCh38
NC_000023.10:g.153608105_153608130del , CM000685.1:g.153608105_153608130del	GRCh37
NC_000023.9:g.153261299_153261324del	NCBI36
NG_008677.1:g.10310_10335del , LRG_745:g.10310_10335del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.138_163del	ENSP00000507245.1:p.Ser49LeufsTer3
ENST00000682478.1:n.114_139del
ENST00000683576.1:n.114_139del
ENST00000683627.1:c.138_163del	ENSP00000507533.1:p.Ser49LeufsTer3
ENST00000684082.1:c.138_163del	ENSP00000508266.1:p.Ser49LeufsTer3
ENST00000684633.1:n.110_135del
ENST00000684678.1:c.134_159del	ENSP00000507059.1:p.Gly45AlafsTer?
ENST00000369842.9:c.138_163del MANE Select	ENSP00000358857.4:p.Ser49LeufsTer3
ENST00000369835.3:c.82+179_83-172del	ENSP00000358850.3:n.82+179_83-172del
ENST00000369842.8:c.138_163del	ENSP00000358857.4:p.Ser49LeufsTer3
ENST00000428228.5:c.*43_*68del	ENSP00000401081.1:n.*43_*68del
ENST00000468294.5:n.98_123del
ENST00000485261.1:n.163+179_164-172del
ENST00000486738.5:n.282_307del
ENST00000492448.1:n.121_146del
ENST00000494443.5:n.195_220del
NM_000117.2:c.138_163del , LRG_745t1:c.138_163del	NP_000108.1:p.Ser49LeufsTer3
XM_024452349.1:c.-71_-46del	XP_024308117.1:n.-71_-46del
NM_000117.3:c.138_163del MANE Select	NP_000108.1:p.Ser49LeufsTer3