Canonical Allele Identifier: CA2580101822

Gene: EMD

Linked Data

• ClinVar Variation Id: 1787242
• ClinVar RCV Id: RCV002432875

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379971dup , CM000685.2:g.154379971dup	GRCh38
NC_000023.10:g.153608331dup , CM000685.1:g.153608331dup	GRCh37
NC_000023.9:g.153261525dup	NCBI36
NG_008677.1:g.10536dup , LRG_745:g.10536dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.217dup	ENSP00000507245.1:p.Met73AsnfsTer3
ENST00000682478.1:n.193dup
ENST00000683576.1:n.193dup
ENST00000683627.1:c.217dup	ENSP00000507533.1:p.Met73AsnfsTer3
ENST00000684082.1:c.217dup	ENSP00000508266.1:p.Met73AsnfsTer3
ENST00000684633.1:n.189dup
ENST00000684678.1:c.213dup	ENSP00000507059.1:n.213dup
ENST00000369842.9:c.217dup MANE Select	ENSP00000358857.4:p.Met73AsnfsTer3
ENST00000369835.3:c.112dup	ENSP00000358850.3:p.Met38AsnfsTer3
ENST00000369842.8:c.217dup	ENSP00000358857.4:p.Met73AsnfsTer3
ENST00000428228.5:c.*122dup	ENSP00000401081.1:n.*122dup
ENST00000468294.5:n.177dup
ENST00000485261.1:n.193dup
ENST00000486738.5:n.361dup
ENST00000492448.1:n.200dup
ENST00000494443.5:n.274dup
NM_000117.2:c.217dup , LRG_745t1:c.217dup	NP_000108.1:p.Met73AsnfsTer3
XM_024452349.1:c.9dup	XP_024308117.1:p.Cys4MetfsTer?
NM_000117.3:c.217dup MANE Select	NP_000108.1:p.Met73AsnfsTer3