Canonical Allele Identifier: CA916082512

Gene: EMD

Linked Data

• ClinVar Variation Id: 859127
• ClinVar RCV Id: RCV001065164
• dbSNP Id: rs2067873691

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379561dup , CM000685.2:g.154379561dup	GRCh38
NC_000023.10:g.153607921dup , CM000685.1:g.153607921dup	GRCh37
NC_000023.9:g.153261115dup	NCBI36
NG_008677.1:g.10126dup , LRG_745:g.10126dup
NG_011506.1:g.86dup
NG_011506.2:g.78dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.77dup	ENSP00000507245.1:p.Val27SerfsTer6
ENST00000682478.1:n.53dup
ENST00000683576.1:n.53dup
ENST00000683627.1:c.77dup	ENSP00000507533.1:p.Val27SerfsTer6
ENST00000684082.1:c.77dup	ENSP00000508266.1:p.Val27SerfsTer6
ENST00000684633.1:n.53dup
ENST00000684678.1:c.77dup	ENSP00000507059.1:p.Asp27ArgfsTer?
ENST00000369842.9:c.77dup MANE Select	ENSP00000358857.4:p.Val27SerfsTer6
ENST00000369835.3:c.77dup	ENSP00000358850.3:p.Val27SerfsTer7
ENST00000369842.8:c.77dup	ENSP00000358857.4:p.Val27SerfsTer6
ENST00000428228.5:c.53+24dup	ENSP00000401081.1:n.53+24dup
ENST00000468294.5:n.37dup
ENST00000485261.1:n.158dup
ENST00000486738.5:n.221dup
ENST00000494443.5:n.134dup
NM_000117.2:c.77dup , LRG_745t1:c.77dup	NP_000108.1:p.Val27SerfsTer6
XM_024452349.1:c.-132dup	XP_024308117.1:n.-132dup
NM_000117.3:c.77dup MANE Select	NP_000108.1:p.Val27SerfsTer6