Canonical Allele Identifier: CA2562206204
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380563_154380568del , CM000685.2:g.154380563_154380568del GRCh38
NC_000023.10:g.153608923_153608928del , CM000685.1:g.153608923_153608928del GRCh37
NC_000023.9:g.153262117_153262122del NCBI36
NG_008677.1:g.11128_11133del , LRG_745:g.11128_11133del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.400-190_400-185del ENSP00000507245.1:n.400-190_400-185del
ENST00000682478.1:n.590-190_590-185del
ENST00000683576.1:n.590-190_590-185del
ENST00000683627.1:c.400-190_400-185del ENSP00000507533.1:n.400-190_400-185del
ENST00000684082.1:c.357-190_357-185del ENSP00000508266.1:n.357-190_357-185del
ENST00000684633.1:n.372-190_372-185del
ENST00000684678.1:c.396-190_396-185del ENSP00000507059.1:n.396-190_396-185del
ENST00000369842.9:c.400-190_400-185del MANE Select ENSP00000358857.4:n.400-190_400-185del
ENST00000369835.3:c.295-190_295-185del ENSP00000358850.3:n.295-190_295-185del
ENST00000369842.8:c.400-190_400-185del ENSP00000358857.4:n.400-190_400-185del
ENST00000428228.5:c.*305-190_*305-185del ENSP00000401081.1:n.*305-190_*305-185del
ENST00000468294.5:n.360-190_360-185del
ENST00000485261.1:n.590-190_590-185del
ENST00000486738.5:n.758-190_758-185del
ENST00000492448.1:n.383-190_383-185del
NM_000117.2:c.400-190_400-185del , LRG_745t1:c.400-190_400-185del NP_000108.1:n.400-190_400-185del
XM_024452349.1:c.406-190_406-185del XP_024308117.1:n.406-190_406-185del
NM_000117.3:c.400-190_400-185del MANE Select NP_000108.1:n.400-190_400-185del