Canonical Allele Identifier: CA2466664327

Gene: EMD

Linked Data

• dbSNP Id: rs2067883242
• gnomAD v4: X-154380817-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380818del , CM000685.2:g.154380818del	GRCh38
NC_000023.10:g.153609178del , CM000685.1:g.153609178del	GRCh37
NC_000023.9:g.153262372del	NCBI36
NG_008677.1:g.11383del , LRG_745:g.11383del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.449+16del	ENSP00000507245.1:n.449+16del
ENST00000682478.1:n.639+16del
ENST00000683576.1:n.639+16del
ENST00000683627.1:c.449+16del	ENSP00000507533.1:n.449+16del
ENST00000684082.1:c.406+16del	ENSP00000508266.1:n.406+16del
ENST00000684633.1:n.421+16del
ENST00000684678.1:c.445+16del	ENSP00000507059.1:n.445+16del
ENST00000369842.9:c.449+16del MANE Select	ENSP00000358857.4:n.449+16del
ENST00000369835.3:c.344+16del	ENSP00000358850.3:n.344+16del
ENST00000369842.8:c.449+16del	ENSP00000358857.4:n.449+16del
ENST00000428228.5:c.*354+16del	ENSP00000401081.1:n.*354+16del
ENST00000468294.5:n.425del
ENST00000471965.1:n.238+16del
ENST00000485261.1:n.655del
ENST00000486738.5:n.823del
ENST00000492448.1:n.432+16del
NM_000117.2:c.449+16del , LRG_745t1:c.449+16del	NP_000108.1:n.449+16del
XM_024452349.1:c.455+16del	XP_024308117.1:n.455+16del
NM_000117.3:c.449+16del MANE Select	NP_000108.1:n.449+16del