Canonical Allele Identifier: CA2824296164

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379909_154379910del , CM000685.2:g.154379909_154379910del	GRCh38
NC_000023.10:g.153608269_153608270del , CM000685.1:g.153608269_153608270del	GRCh37
NC_000023.9:g.153261463_153261464del	NCBI36
NG_008677.1:g.10474_10475del , LRG_745:g.10474_10475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.188-33_188-32del	ENSP00000507245.1:n.188-33_188-32del
ENST00000682478.1:n.164-33_164-32del
ENST00000683576.1:n.164-33_164-32del
ENST00000683627.1:c.188-33_188-32del	ENSP00000507533.1:n.188-33_188-32del
ENST00000684082.1:c.188-33_188-32del	ENSP00000508266.1:n.188-33_188-32del
ENST00000684633.1:n.160-33_160-32del
ENST00000684678.1:c.184-33_184-32del	ENSP00000507059.1:n.184-33_184-32del
ENST00000369842.9:c.188-33_188-32del MANE Select	ENSP00000358857.4:n.188-33_188-32del
ENST00000369835.3:c.83-33_83-32del	ENSP00000358850.3:n.83-33_83-32del
ENST00000369842.8:c.188-33_188-32del	ENSP00000358857.4:n.188-33_188-32del
ENST00000428228.5:c.*93-33_*93-32del	ENSP00000401081.1:n.*93-33_*93-32del
ENST00000468294.5:n.148-33_148-32del
ENST00000485261.1:n.164-33_164-32del
ENST00000486738.5:n.332-33_332-32del
ENST00000492448.1:n.171-33_171-32del
ENST00000494443.5:n.245-33_245-32del
NM_000117.2:c.188-33_188-32del , LRG_745t1:c.188-33_188-32del	NP_000108.1:n.188-33_188-32del
XM_024452349.1:c.-21-33_-21-32del	XP_024308117.1:n.-21-33_-21-32del
NM_000117.3:c.188-33_188-32del MANE Select	NP_000108.1:n.188-33_188-32del