Canonical Allele Identifier: CA2695236990

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379511_154379524del , CM000685.2:g.154379511_154379524del	GRCh38
NC_000023.10:g.153607871_153607884del , CM000685.1:g.153607871_153607884del	GRCh37
NC_000023.9:g.153261065_153261078del	NCBI36
NG_008677.1:g.10076_10089del , LRG_745:g.10076_10089del
NG_011506.1:g.124_137del
NG_011506.2:g.116_129del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.27_40del	ENSP00000507245.1:p.Thr10LeufsTer18
ENST00000682478.1:n.3_16del
ENST00000683576.1:n.3_16del
ENST00000683627.1:c.27_40del	ENSP00000507533.1:p.Thr10LeufsTer18
ENST00000684082.1:c.27_40del	ENSP00000508266.1:p.Thr10LeufsTer18
ENST00000684633.1:n.3_16del
ENST00000684678.1:c.27_40del	ENSP00000507059.1:p.Thr10LeufsTer?
ENST00000369842.9:c.27_40del MANE Select	ENSP00000358857.4:p.Thr10LeufsTer18
ENST00000369835.3:c.27_40del	ENSP00000358850.3:p.Thr10LeufsTer19
ENST00000369842.8:c.27_40del	ENSP00000358857.4:p.Thr10LeufsTer18
ENST00000428228.5:c.27_40del	ENSP00000401081.1:p.Thr10LeufsTer?
ENST00000485261.1:n.108_121del
ENST00000486738.5:n.171_184del
ENST00000494443.5:n.84_97del
NM_000117.2:c.27_40del , LRG_745t1:c.27_40del	NP_000108.1:p.Thr10LeufsTer18
XM_024452349.1:c.-182_-169del	XP_024308117.1:n.-182_-169del
NM_000117.3:c.27_40del MANE Select	NP_000108.1:p.Thr10LeufsTer18