Canonical Allele Identifier: CA2466663999

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380083_154380087delinsCAGGG , CM000685.2:g.154380083_154380087delinsCAGGG	GRCh38
NC_000023.10:g.153608443_153608447delinsCAGGG , CM000685.1:g.153608443_153608447delinsCAGGG	GRCh37
NC_000023.9:g.153261637_153261641delinsCAGGG	NCBI36
NG_008677.1:g.10648_10652delinsCAGGG , LRG_745:g.10648_10652delinsCAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.265+64_265+68delinsCAGGG	ENSP00000507245.1:n.265+64_265+68delinsCAGGG
ENST00000682478.1:n.305_309delinsCAGGG
ENST00000683576.1:n.305_309delinsCAGGG
ENST00000683627.1:c.265+64_265+68delinsCAGGG	ENSP00000507533.1:n.265+64_265+68delinsCAGGG
ENST00000684082.1:c.265+64_265+68delinsCAGGG	ENSP00000508266.1:n.265+64_265+68delinsCAGGG
ENST00000684633.1:n.237+64_237+68delinsCAGGG
ENST00000684678.1:c.261+64_261+68delinsCAGGG	ENSP00000507059.1:n.261+64_261+68delinsCAGGG
ENST00000369842.9:c.265+64_265+68delinsCAGGG MANE Select	ENSP00000358857.4:n.265+64_265+68delinsCAGGG
ENST00000369835.3:c.160+64_160+68delinsCAGGG	ENSP00000358850.3:n.160+64_160+68delinsCAGGG
ENST00000369842.8:c.265+64_265+68delinsCAGGG	ENSP00000358857.4:n.265+64_265+68delinsCAGGG
ENST00000428228.5:c.*170+64_*170+68delinsCAGGG	ENSP00000401081.1:n.*170+64_*170+68delinsCAGGG
ENST00000468294.5:n.225+64_225+68delinsCAGGG
ENST00000485261.1:n.305_309delinsCAGGG
ENST00000486738.5:n.473_477delinsCAGGG
ENST00000492448.1:n.248+64_248+68delinsCAGGG
ENST00000494443.5:n.386_390delinsCAGGG
NM_000117.2:c.265+64_265+68delinsCAGGG , LRG_745t1:c.265+64_265+68delinsCAGGG	NP_000108.1:n.265+64_265+68delinsCAGGG
XM_024452349.1:c.121_125delinsCAGGG	XP_024308117.1:p.Gln41=
NM_000117.3:c.265+64_265+68delinsCAGGG MANE Select	NP_000108.1:n.265+64_265+68delinsCAGGG