Canonical Allele Identifier: CA2572548162

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379679_154379685del , CM000685.2:g.154379679_154379685del	GRCh38
NC_000023.10:g.153608039_153608045del , CM000685.1:g.153608039_153608045del	GRCh37
NC_000023.9:g.153261233_153261239del	NCBI36
NG_008677.1:g.10244_10250del , LRG_745:g.10244_10250del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.83-11_83-5del	ENSP00000507245.1:n.83-11_83-5del
ENST00000682478.1:n.59-11_59-5del
ENST00000683576.1:n.59-11_59-5del
ENST00000683627.1:c.83-11_83-5del	ENSP00000507533.1:n.83-11_83-5del
ENST00000684082.1:c.83-11_83-5del	ENSP00000508266.1:n.83-11_83-5del
ENST00000684633.1:n.55-11_55-5del
ENST00000684678.1:c.79-11_79-5del	ENSP00000507059.1:n.79-11_79-5del
ENST00000369842.9:c.83-11_83-5del MANE Select	ENSP00000358857.4:n.83-11_83-5del
ENST00000369835.3:c.82+113_82+119del	ENSP00000358850.3:n.82+113_82+119del
ENST00000369842.8:c.83-11_83-5del	ENSP00000358857.4:n.83-11_83-5del
ENST00000428228.5:c.54-11_54-5del	ENSP00000401081.1:n.54-11_54-5del
ENST00000468294.5:n.43-11_43-5del
ENST00000485261.1:n.163+113_163+119del
ENST00000486738.5:n.227-11_227-5del
ENST00000492448.1:n.55_61del
ENST00000494443.5:n.140-11_140-5del
NM_000117.2:c.83-11_83-5del , LRG_745t1:c.83-11_83-5del	NP_000108.1:n.83-11_83-5del
XM_024452349.1:c.-126-11_-126-5del	XP_024308117.1:n.-126-11_-126-5del
NM_000117.3:c.83-11_83-5del MANE Select	NP_000108.1:n.83-11_83-5del