Canonical Allele Identifier: CA2573159418

Gene: EMD

Linked Data

• ClinVar Variation Id: 1513817
• ClinVar RCV Id: RCV002018491
• dbSNP Id: rs2148128987

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381112_154381116del , CM000685.2:g.154381112_154381116del	GRCh38
NC_000023.10:g.153609472_153609476del , CM000685.1:g.153609472_153609476del	GRCh37
NC_000023.9:g.153262666_153262670del	NCBI36
NG_008677.1:g.11677_11681del , LRG_745:g.11677_11681del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+108_572+112del	ENSP00000507245.1:n.572+108_572+112del
ENST00000682478.1:n.762+108_762+112del
ENST00000683576.1:n.870_874del
ENST00000683627.1:c.680_684del	ENSP00000507533.1:p.Gly227AlafsTer21
ENST00000684082.1:c.637_641del	ENSP00000508266.1:n.637_641del
ENST00000684633.1:n.652_656del
ENST00000684678.1:c.568+108_568+112del	ENSP00000507059.1:n.568+108_568+112del
ENST00000369842.9:c.680_684del MANE Select	ENSP00000358857.4:p.Gly227AlafsTer21
ENST00000369835.3:c.575_579del	ENSP00000358850.3:p.Gly192AlafsTer21
ENST00000369842.8:c.680_684del	ENSP00000358857.4:p.Gly227AlafsTer21
ENST00000428228.5:c.*585_*589del	ENSP00000401081.1:n.*585_*589del
ENST00000471965.1:n.469_473del
ENST00000486738.5:n.1117_1121del
ENST00000492448.1:n.663_667del
NM_000117.2:c.680_684del , LRG_745t1:c.680_684del	NP_000108.1:p.Gly227AlafsTer21
XM_024452349.1:c.686_690del	XP_024308117.1:p.Gly229AlafsTer21
NM_000117.3:c.680_684del MANE Select	NP_000108.1:p.Gly227AlafsTer21