Canonical Allele Identifier: CA2466664029

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380146_154380159delinsAGGTCCCGAAATGG , CM000685.2:g.154380146_154380159delinsAGGTCCCGAAATGG	GRCh38
NC_000023.10:g.153608506_153608519delinsAGGTCCCGAAATGG , CM000685.1:g.153608506_153608519delinsAGGTCCCGAAATGG	GRCh37
NC_000023.9:g.153261700_153261713delinsAGGTCCCGAAATGG	NCBI36
NG_008677.1:g.10711_10724delinsAGGTCCCGAAATGG , LRG_745:g.10711_10724delinsAGGTCCCGAAATGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.266-88_266-75delinsAGGTCCCGAAATGG	ENSP00000507245.1:n.266-88_266-75delinsAG...
ENST00000682478.1:n.368_381delinsAGGTCCCGAAATGG
ENST00000683576.1:n.368_381delinsAGGTCCCGAAATGG
ENST00000683627.1:c.266-88_266-75delinsAGGTCCCGAAATGG	ENSP00000507533.1:n.266-88_266-75delinsAG...
ENST00000684082.1:c.265+127_266-118delinsAGGTCCCGAAATGG	ENSP00000508266.1:n.265+127_266-118delins...
ENST00000684633.1:n.238-88_238-75delinsAGGTCCCGAAATGG
ENST00000684678.1:c.262-88_262-75delinsAGGTCCCGAAATGG	ENSP00000507059.1:n.262-88_262-75delinsAG...
ENST00000369842.9:c.266-88_266-75delinsAGGTCCCGAAATGG MANE Select	ENSP00000358857.4:n.266-88_266-75delinsAG...
ENST00000369835.3:c.161-88_161-75delinsAGGTCCCGAAATGG	ENSP00000358850.3:n.161-88_161-75delinsAG...
ENST00000369842.8:c.266-88_266-75delinsAGGTCCCGAAATGG	ENSP00000358857.4:n.266-88_266-75delinsAG...
ENST00000428228.5:c.*171-88_*171-75delinsAGGTCCCGAAATGG	ENSP00000401081.1:n.*171-88_*171-75delins...
ENST00000468294.5:n.226-88_226-75delinsAGGTCCCGAAATGG
ENST00000485261.1:n.368_381delinsAGGTCCCGAAATGG
ENST00000486738.5:n.536_549delinsAGGTCCCGAAATGG
ENST00000492448.1:n.249-88_249-75delinsAGGTCCCGAAATGG
ENST00000494443.5:n.449_462delinsAGGTCCCGAAATGG
NM_000117.2:c.266-88_266-75delinsAGGTCCCGAAATGG , LRG_745t1:c.266-88_266-75delinsAGGTCCCGAAATGG	NP_000108.1:n.266-88_266-75delinsAGGTCCCG...
XM_024452349.1:c.184_197delinsAGGTCCCGAAATGG	XP_024308117.1:p.Arg62=
NM_000117.3:c.266-88_266-75delinsAGGTCCCGAAATGG MANE Select	NP_000108.1:n.266-88_266-75delinsAGGTCCCG...