Canonical Allele Identifier: CA2580101805

Gene: EMD

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379746_154379747dup , CM000685.2:g.154379746_154379747dup	GRCh38
NC_000023.10:g.153608106_153608107dup , CM000685.1:g.153608106_153608107dup	GRCh37
NC_000023.9:g.153261300_153261301dup	NCBI36
NG_008677.1:g.10311_10312dup , LRG_745:g.10311_10312dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.139_140dup	ENSP00000507245.1:p.Leu48GlyfsTer18
ENST00000682478.1:n.115_116dup
ENST00000683576.1:n.115_116dup
ENST00000683627.1:c.139_140dup	ENSP00000507533.1:p.Leu48GlyfsTer18
ENST00000684082.1:c.139_140dup	ENSP00000508266.1:p.Leu48GlyfsTer18
ENST00000684633.1:n.111_112dup
ENST00000684678.1:c.135_136dup	ENSP00000507059.1:p.Gly46AlafsTer14
ENST00000369842.9:c.139_140dup MANE Select	ENSP00000358857.4:p.Leu48GlyfsTer18
ENST00000369835.3:c.82+180_82+181dup	ENSP00000358850.3:n.82+180_82+181dup
ENST00000369842.8:c.139_140dup	ENSP00000358857.4:p.Leu48GlyfsTer18
ENST00000428228.5:c.*44_*45dup	ENSP00000401081.1:n.*44_*45dup
ENST00000468294.5:n.99_100dup
ENST00000485261.1:n.163+180_163+181dup
ENST00000486738.5:n.283_284dup
ENST00000492448.1:n.122_123dup
ENST00000494443.5:n.196_197dup
NM_000117.2:c.139_140dup , LRG_745t1:c.139_140dup	NP_000108.1:p.Leu48GlyfsTer18
XM_024452349.1:c.-70_-69dup	XP_024308117.1:n.-70_-69dup
NM_000117.3:c.139_140dup MANE Select	NP_000108.1:p.Leu48GlyfsTer18