Canonical Allele Identifier: CA645171874
Gene: EMD HGNC NCBI

Linked Data

dbSNP Id: rs1557182527

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380717_154380725del , CM000685.2:g.154380717_154380725del GRCh38
NC_000023.10:g.153609077_153609085del , CM000685.1:g.153609077_153609085del GRCh37
NC_000023.9:g.153262271_153262279del NCBI36
NG_008677.1:g.11282_11290del , LRG_745:g.11282_11290del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.400-36_400-28del ENSP00000507245.1:n.400-36_400-28del
ENST00000682478.1:n.590-36_590-28del
ENST00000683576.1:n.590-36_590-28del
ENST00000683627.1:c.400-36_400-28del ENSP00000507533.1:n.400-36_400-28del
ENST00000684082.1:c.357-36_357-28del ENSP00000508266.1:n.357-36_357-28del
ENST00000684633.1:n.372-36_372-28del
ENST00000684678.1:c.396-36_396-28del ENSP00000507059.1:n.396-36_396-28del
ENST00000369842.9:c.400-36_400-28del MANE Select ENSP00000358857.4:n.400-36_400-28del
ENST00000369835.3:c.295-36_295-28del ENSP00000358850.3:n.295-36_295-28del
ENST00000369842.8:c.400-36_400-28del ENSP00000358857.4:n.400-36_400-28del
ENST00000428228.5:c.*305-36_*305-28del ENSP00000401081.1:n.*305-36_*305-28del
ENST00000468294.5:n.360-36_360-28del
ENST00000471965.1:n.153_161del
ENST00000485261.1:n.590-36_590-28del
ENST00000486738.5:n.758-36_758-28del
ENST00000492448.1:n.383-36_383-28del
NM_000117.2:c.400-36_400-28del , LRG_745t1:c.400-36_400-28del NP_000108.1:n.400-36_400-28del
XM_024452349.1:c.406-36_406-28del XP_024308117.1:n.406-36_406-28del
NM_000117.3:c.400-36_400-28del MANE Select NP_000108.1:n.400-36_400-28del