Canonical Allele Identifier: CA2824296149

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379583_154379584insCGCC , CM000685.2:g.154379583_154379584insCGCC	GRCh38
NC_000023.10:g.153607943_153607944insCGCC , CM000685.1:g.153607943_153607944insCGCC	GRCh37
NC_000023.9:g.153261137_153261138insCGCC	NCBI36
NG_008677.1:g.10148_10149insCGCC , LRG_745:g.10148_10149insCGCC
NG_011506.1:g.63_64insGGCG
NG_011506.2:g.55_56insGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.82+17_82+18insCGCC	ENSP00000507245.1:n.82+17_82+18insCGCC
ENST00000682478.1:n.58+17_58+18insCGCC
ENST00000683576.1:n.58+17_58+18insCGCC
ENST00000683627.1:c.82+17_82+18insCGCC	ENSP00000507533.1:n.82+17_82+18insCGCC
ENST00000684082.1:c.82+17_82+18insCGCC	ENSP00000508266.1:n.82+17_82+18insCGCC
ENST00000684633.1:n.54+21_54+22insCGCC
ENST00000684678.1:c.78+21_78+22insCGCC	ENSP00000507059.1:n.78+21_78+22insCGCC
ENST00000369842.9:c.82+17_82+18insCGCC MANE Select	ENSP00000358857.4:n.82+17_82+18insCGCC
ENST00000369835.3:c.82+17_82+18insCGCC	ENSP00000358850.3:n.82+17_82+18insCGCC
ENST00000369842.8:c.82+17_82+18insCGCC	ENSP00000358857.4:n.82+17_82+18insCGCC
ENST00000428228.5:c.53+46_53+47insCGCC	ENSP00000401081.1:n.53+46_53+47insCGCC
ENST00000468294.5:n.42+17_42+18insCGCC
ENST00000485261.1:n.163+17_163+18insCGCC
ENST00000486738.5:n.226+17_226+18insCGCC
ENST00000494443.5:n.139+17_139+18insCGCC
NM_000117.2:c.82+17_82+18insCGCC , LRG_745t1:c.82+17_82+18insCGCC	NP_000108.1:n.82+17_82+18insCGCC
XM_024452349.1:c.-127+17_-127+18insCGCC	XP_024308117.1:n.-127+17_-127+18insCGCC
NM_000117.3:c.82+17_82+18insCGCC MANE Select	NP_000108.1:n.82+17_82+18insCGCC