Canonical Allele Identifier: CA2695237018

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380825_154380847del , CM000685.2:g.154380825_154380847del	GRCh38
NC_000023.10:g.153609185_153609207del , CM000685.1:g.153609185_153609207del	GRCh37
NC_000023.9:g.153262379_153262401del	NCBI36
NG_008677.1:g.11390_11412del , LRG_745:g.11390_11412del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.449+23_450-35del	ENSP00000507245.1:n.449+23_450-35del
ENST00000682478.1:n.639+23_640-35del
ENST00000683576.1:n.639+23_640-35del
ENST00000683627.1:c.449+23_450-35del	ENSP00000507533.1:n.449+23_450-35del
ENST00000684082.1:c.406+23_407-35del	ENSP00000508266.1:n.406+23_407-35del
ENST00000684633.1:n.421+23_422-35del
ENST00000684678.1:c.445+23_446-35del	ENSP00000507059.1:n.445+23_446-35del
ENST00000369842.9:c.449+23_450-35del MANE Select	ENSP00000358857.4:n.449+23_450-35del
ENST00000369835.3:c.344+23_345-35del	ENSP00000358850.3:n.344+23_345-35del
ENST00000369842.8:c.449+23_450-35del	ENSP00000358857.4:n.449+23_450-35del
ENST00000428228.5:c.*354+23_*355-35del	ENSP00000401081.1:n.*354+23_*355-35del
ENST00000468294.5:n.432_454del
ENST00000471965.1:n.238+23_239-35del
ENST00000485261.1:n.662_684del
ENST00000486738.5:n.830_852del
ENST00000492448.1:n.432+23_433-35del
NM_000117.2:c.449+23_450-35del , LRG_745t1:c.449+23_450-35del	NP_000108.1:n.449+23_450-35del
XM_024452349.1:c.455+23_456-35del	XP_024308117.1:n.455+23_456-35del
NM_000117.3:c.449+23_450-35del MANE Select	NP_000108.1:n.449+23_450-35del