Canonical Allele Identifier: CA2579738509

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379920_154379921del , CM000685.2:g.154379920_154379921del	GRCh38
NC_000023.10:g.153608280_153608281del , CM000685.1:g.153608280_153608281del	GRCh37
NC_000023.9:g.153261474_153261475del	NCBI36
NG_008677.1:g.10485_10486del , LRG_745:g.10485_10486del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.188-22_188-21del	ENSP00000507245.1:n.188-22_188-21del
ENST00000682478.1:n.164-22_164-21del
ENST00000683576.1:n.164-22_164-21del
ENST00000683627.1:c.188-22_188-21del	ENSP00000507533.1:n.188-22_188-21del
ENST00000684082.1:c.188-22_188-21del	ENSP00000508266.1:n.188-22_188-21del
ENST00000684633.1:n.160-22_160-21del
ENST00000684678.1:c.184-22_184-21del	ENSP00000507059.1:n.184-22_184-21del
ENST00000369842.9:c.188-22_188-21del MANE Select	ENSP00000358857.4:n.188-22_188-21del
ENST00000369835.3:c.83-22_83-21del	ENSP00000358850.3:n.83-22_83-21del
ENST00000369842.8:c.188-22_188-21del	ENSP00000358857.4:n.188-22_188-21del
ENST00000428228.5:c.*93-22_*93-21del	ENSP00000401081.1:n.*93-22_*93-21del
ENST00000468294.5:n.148-22_148-21del
ENST00000485261.1:n.164-22_164-21del
ENST00000486738.5:n.332-22_332-21del
ENST00000492448.1:n.171-22_171-21del
ENST00000494443.5:n.245-22_245-21del
NM_000117.2:c.188-22_188-21del , LRG_745t1:c.188-22_188-21del	NP_000108.1:n.188-22_188-21del
XM_024452349.1:c.-21-22_-21-21del	XP_024308117.1:n.-21-22_-21-21del
NM_000117.3:c.188-22_188-21del MANE Select	NP_000108.1:n.188-22_188-21del