Canonical Allele Identifier: CA2825002929

Gene: EMD

Linked Data

• ClinVar Variation Id: 3069158
• ClinVar RCV Id: RCV004006218

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381094_154381095insT , CM000685.2:g.154381094_154381095insT	GRCh38
NC_000023.10:g.153609454_153609455insT , CM000685.1:g.153609454_153609455insT	GRCh37
NC_000023.9:g.153262648_153262649insT	NCBI36
NG_008677.1:g.11659_11660insT , LRG_745:g.11659_11660insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+90_572+91insT	ENSP00000507245.1:n.572+90_572+91insT
ENST00000682478.1:n.762+90_762+91insT
ENST00000683576.1:n.852_853insT
ENST00000683627.1:c.662_663insT	ENSP00000507533.1:p.Gln222ProfsTer28
ENST00000684082.1:c.619_620insT	ENSP00000508266.1:n.619_620insT
ENST00000684633.1:n.634_635insT
ENST00000684678.1:c.568+90_568+91insT	ENSP00000507059.1:n.568+90_568+91insT
ENST00000369842.9:c.662_663insT MANE Select	ENSP00000358857.4:p.Gln222ProfsTer28
ENST00000369835.3:c.557_558insT	ENSP00000358850.3:p.Gln187ProfsTer28
ENST00000369842.8:c.662_663insT	ENSP00000358857.4:p.Gln222ProfsTer28
ENST00000428228.5:c.*567_*568insT	ENSP00000401081.1:n.*567_*568insT
ENST00000471965.1:n.451_452insT
ENST00000486738.5:n.1099_1100insT
ENST00000492448.1:n.645_646insT
NM_000117.2:c.662_663insT , LRG_745t1:c.662_663insT	NP_000108.1:p.Gln222ProfsTer28
XM_024452349.1:c.668_669insT	XP_024308117.1:p.Gln224ProfsTer28
NM_000117.3:c.662_663insT MANE Select	NP_000108.1:p.Gln222ProfsTer28