Canonical Allele Identifier: CA2466663979

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380027_154380028delinsAG , CM000685.2:g.154380027_154380028delinsAG	GRCh38
NC_000023.10:g.153608387_153608388delinsAG , CM000685.1:g.153608387_153608388delinsAG	GRCh37
NC_000023.9:g.153261581_153261582delinsAG	NCBI36
NG_008677.1:g.10592_10593delinsAG , LRG_745:g.10592_10593delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.265+8_265+9delinsAG	ENSP00000507245.1:n.265+8_265+9delinsAG
ENST00000682478.1:n.249_250delinsAG
ENST00000683576.1:n.249_250delinsAG
ENST00000683627.1:c.265+8_265+9delinsAG	ENSP00000507533.1:n.265+8_265+9delinsAG
ENST00000684082.1:c.265+8_265+9delinsAG	ENSP00000508266.1:n.265+8_265+9delinsAG
ENST00000684633.1:n.237+8_237+9delinsAG
ENST00000684678.1:c.261+8_261+9delinsAG	ENSP00000507059.1:n.261+8_261+9delinsAG
ENST00000369842.9:c.265+8_265+9delinsAG MANE Select	ENSP00000358857.4:n.265+8_265+9delinsAG
ENST00000369835.3:c.160+8_160+9delinsAG	ENSP00000358850.3:n.160+8_160+9delinsAG
ENST00000369842.8:c.265+8_265+9delinsAG	ENSP00000358857.4:n.265+8_265+9delinsAG
ENST00000428228.5:c.*170+8_*170+9delinsAG	ENSP00000401081.1:n.*170+8_*170+9delinsAG
ENST00000468294.5:n.225+8_225+9delinsAG
ENST00000485261.1:n.249_250delinsAG
ENST00000486738.5:n.417_418delinsAG
ENST00000492448.1:n.248+8_248+9delinsAG
ENST00000494443.5:n.330_331delinsAG
NM_000117.2:c.265+8_265+9delinsAG , LRG_745t1:c.265+8_265+9delinsAG	NP_000108.1:n.265+8_265+9delinsAG
XM_024452349.1:c.65_66delinsAG	XP_024308117.1:p.Gln22=
NM_000117.3:c.265+8_265+9delinsAG MANE Select	NP_000108.1:n.265+8_265+9delinsAG