Canonical Allele Identifier: CA2568592522

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379726_154379727insC , CM000685.2:g.154379726_154379727insC	GRCh38
NC_000023.10:g.153608086_153608087insC , CM000685.1:g.153608086_153608087insC	GRCh37
NC_000023.9:g.153261280_153261281insC	NCBI36
NG_008677.1:g.10291_10292insC , LRG_745:g.10291_10292insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.119_120insC	ENSP00000507245.1:p.Glu40AspfsTer21
ENST00000682478.1:n.95_96insC
ENST00000683576.1:n.95_96insC
ENST00000683627.1:c.119_120insC	ENSP00000507533.1:p.Glu40AspfsTer21
ENST00000684082.1:c.119_120insC	ENSP00000508266.1:p.Glu40AspfsTer21
ENST00000684633.1:n.91_92insC
ENST00000684678.1:c.115_116insC	ENSP00000507059.1:p.Ser39ThrfsTer?
ENST00000369842.9:c.119_120insC MANE Select	ENSP00000358857.4:p.Glu40AspfsTer21
ENST00000369835.3:c.82+160_82+161insC	ENSP00000358850.3:n.82+160_82+161insC
ENST00000369842.8:c.119_120insC	ENSP00000358857.4:p.Glu40AspfsTer21
ENST00000428228.5:c.*24_*25insC	ENSP00000401081.1:n.*24_*25insC
ENST00000468294.5:n.79_80insC
ENST00000485261.1:n.163+160_163+161insC
ENST00000486738.5:n.263_264insC
ENST00000492448.1:n.102_103insC
ENST00000494443.5:n.176_177insC
NM_000117.2:c.119_120insC , LRG_745t1:c.119_120insC	NP_000108.1:p.Glu40AspfsTer21
XM_024452349.1:c.-90_-89insC	XP_024308117.1:n.-90_-89insC
NM_000117.3:c.119_120insC MANE Select	NP_000108.1:p.Glu40AspfsTer21