Canonical Allele Identifier: CA2579738436

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379402del , CM000685.2:g.154379402del	GRCh38
NC_000023.10:g.153607762del , CM000685.1:g.153607762del	GRCh37
NC_000023.9:g.153260956del	NCBI36
NG_008677.1:g.9967del , LRG_745:g.9967del
NG_011506.1:g.245del
NG_011506.2:g.237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369842.9:c.-83del MANE Select	ENSP00000358857.4:n.-83del
ENST00000369835.3:c.-83del	ENSP00000358850.3:n.-83del
ENST00000369842.8:c.-83del	ENSP00000358857.4:n.-83del
ENST00000428228.5:c.-83del	ENSP00000401081.1:n.-83del
ENST00000486738.5:n.62del
NM_000117.2:c.-83del , LRG_745t1:c.-83del	NP_000108.1:n.-83del
XM_024452349.1:c.-291del	XP_024308117.1:n.-291del
NM_000117.3:c.-83del MANE Select	NP_000108.1:n.-83del