Canonical Allele Identifier: CA2573159414

Gene: EMD

Linked Data

• ClinVar Variation Id: 1451449
• ClinVar RCV Id: RCV002007226
• dbSNP Id: rs2148128862

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380993_154380999dup , CM000685.2:g.154380993_154380999dup	GRCh38
NC_000023.10:g.153609353_153609359dup , CM000685.1:g.153609353_153609359dup	GRCh37
NC_000023.9:g.153262547_153262553dup	NCBI36
NG_008677.1:g.11558_11564dup , LRG_745:g.11558_11564dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.561_567dup	ENSP00000507245.1:p.Phe190HisfsTer?
ENST00000682478.1:n.751_757dup
ENST00000683576.1:n.751_757dup
ENST00000683627.1:c.561_567dup	ENSP00000507533.1:p.Phe190HisfsTer22
ENST00000684082.1:c.518_524dup	ENSP00000508266.1:n.518_524dup
ENST00000684633.1:n.533_539dup
ENST00000684678.1:c.557_563dup	ENSP00000507059.1:n.557_563dup
ENST00000369842.9:c.561_567dup MANE Select	ENSP00000358857.4:p.Phe190HisfsTer22
ENST00000369835.3:c.456_462dup	ENSP00000358850.3:p.Phe155HisfsTer22
ENST00000369842.8:c.561_567dup	ENSP00000358857.4:p.Phe190HisfsTer22
ENST00000428228.5:c.*466_*472dup	ENSP00000401081.1:n.*466_*472dup
ENST00000471965.1:n.350_356dup
ENST00000486738.5:n.998_1004dup
ENST00000492448.1:n.544_550dup
NM_000117.2:c.561_567dup , LRG_745t1:c.561_567dup	NP_000108.1:p.Phe190HisfsTer22
XM_024452349.1:c.567_573dup	XP_024308117.1:p.Phe192HisfsTer22
NM_000117.3:c.561_567dup MANE Select	NP_000108.1:p.Phe190HisfsTer22