Canonical Allele Identifier: CA2499226498

Gene: EMD

Linked Data

• ClinVar Variation Id: 1072810
• ClinVar RCV Id: RCV001385621
• dbSNP Id: rs2148128871

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381002dup , CM000685.2:g.154381002dup	GRCh38
NC_000023.10:g.153609362dup , CM000685.1:g.153609362dup	GRCh37
NC_000023.9:g.153262556dup	NCBI36
NG_008677.1:g.11567dup , LRG_745:g.11567dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.570dup	ENSP00000507245.1:p.Met191TyrfsTer?
ENST00000682478.1:n.760dup
ENST00000683576.1:n.760dup
ENST00000683627.1:c.570dup	ENSP00000507533.1:p.Met191TyrfsTer19
ENST00000684082.1:c.527dup	ENSP00000508266.1:n.527dup
ENST00000684633.1:n.542dup
ENST00000684678.1:c.566dup	ENSP00000507059.1:n.566dup
ENST00000369842.9:c.570dup MANE Select	ENSP00000358857.4:p.Met191TyrfsTer19
ENST00000369835.3:c.465dup	ENSP00000358850.3:p.Met156TyrfsTer19
ENST00000369842.8:c.570dup	ENSP00000358857.4:p.Met191TyrfsTer19
ENST00000428228.5:c.*475dup	ENSP00000401081.1:n.*475dup
ENST00000471965.1:n.359dup
ENST00000486738.5:n.1007dup
ENST00000492448.1:n.553dup
NM_000117.2:c.570dup , LRG_745t1:c.570dup	NP_000108.1:p.Met191TyrfsTer19
XM_024452349.1:c.576dup	XP_024308117.1:p.Met193TyrfsTer19
NM_000117.3:c.570dup MANE Select	NP_000108.1:p.Met191TyrfsTer19