Canonical Allele Identifier: CA2466664188

Gene: EMD

Linked Data

• dbSNP Id: rs2067881249
• gnomAD v4: X-154380534-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380538_154380539del , CM000685.2:g.154380538_154380539del	GRCh38
NC_000023.10:g.153608898_153608899del , CM000685.1:g.153608898_153608899del	GRCh37
NC_000023.9:g.153262092_153262093del	NCBI36
NG_008677.1:g.11103_11104del , LRG_745:g.11103_11104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.399+171_399+172del	ENSP00000507245.1:n.399+171_399+172del
ENST00000682478.1:n.589+171_589+172del
ENST00000683576.1:n.589+171_589+172del
ENST00000683627.1:c.399+171_399+172del	ENSP00000507533.1:n.399+171_399+172del
ENST00000684082.1:c.356+171_356+172del	ENSP00000508266.1:n.356+171_356+172del
ENST00000684633.1:n.371+171_371+172del
ENST00000684678.1:c.395+171_395+172del	ENSP00000507059.1:n.395+171_395+172del
ENST00000369842.9:c.399+171_399+172del MANE Select	ENSP00000358857.4:n.399+171_399+172del
ENST00000369835.3:c.294+171_294+172del	ENSP00000358850.3:n.294+171_294+172del
ENST00000369842.8:c.399+171_399+172del	ENSP00000358857.4:n.399+171_399+172del
ENST00000428228.5:c.*304+171_*304+172del	ENSP00000401081.1:n.*304+171_*304+172del
ENST00000468294.5:n.359+171_359+172del
ENST00000485261.1:n.589+171_589+172del
ENST00000486738.5:n.757+171_757+172del
ENST00000492448.1:n.382+171_382+172del
NM_000117.2:c.399+171_399+172del , LRG_745t1:c.399+171_399+172del	NP_000108.1:n.399+171_399+172del
XM_024452349.1:c.405+171_405+172del	XP_024308117.1:n.405+171_405+172del
NM_000117.3:c.399+171_399+172del MANE Select	NP_000108.1:n.399+171_399+172del