Canonical Allele Identifier: CA913191228

Gene: EMD

Linked Data

• ClinVar Variation Id: 594972
• ClinVar RCV Id: RCV000730390
• dbSNP Id: rs1569552102

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380900_154380903del , CM000685.2:g.154380900_154380903del	GRCh38
NC_000023.10:g.153609260_153609263del , CM000685.1:g.153609260_153609263del	GRCh37
NC_000023.9:g.153262454_153262457del	NCBI36
NG_008677.1:g.11465_11468del , LRG_745:g.11465_11468del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.468_471del	ENSP00000507245.1:p.Arg157ThrfsTer?
ENST00000682478.1:n.658_661del
ENST00000683576.1:n.658_661del
ENST00000683627.1:c.468_471del	ENSP00000507533.1:p.Arg157ThrfsTer?
ENST00000684082.1:c.425_428del	ENSP00000508266.1:n.425_428del
ENST00000684633.1:n.440_443del
ENST00000684678.1:c.464_467del	ENSP00000507059.1:n.464_467del
ENST00000369842.9:c.468_471del MANE Select	ENSP00000358857.4:p.Arg157ThrfsTer?
ENST00000369835.3:c.363_366del	ENSP00000358850.3:p.Arg122ThrfsTer?
ENST00000369842.8:c.468_471del	ENSP00000358857.4:p.Arg157ThrfsTer?
ENST00000428228.5:c.*373_*376del	ENSP00000401081.1:n.*373_*376del
ENST00000471965.1:n.257_260del
ENST00000485261.1:n.737_740del
ENST00000486738.5:n.905_908del
ENST00000492448.1:n.451_454del
NM_000117.2:c.468_471del , LRG_745t1:c.468_471del	NP_000108.1:p.Arg157ThrfsTer?
XM_024452349.1:c.474_477del	XP_024308117.1:p.Arg159ThrfsTer?
NM_000117.3:c.468_471del MANE Select	NP_000108.1:p.Arg157ThrfsTer?