Canonical Allele Identifier: CA2617379555
Gene: EMG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6974441_6974551del , CM000674.2:g.6974441_6974551del GRCh38
NC_000012.11:g.7083603_7083713del , CM000674.1:g.7083603_7083713del GRCh37
NC_000012.10:g.6953864_6953974del NCBI36
NG_021408.1:g.8661_8771del
NG_021408.2:g.8661_8771del

Transcript Alleles

HGVS Amino-acid change
ENST00000599672.6:c.270+1_271-1del
ENST00000261406.7:c.252+1_253-1del
ENST00000539196.2:c.133+1_134-1del
ENST00000599672.5:c.270+1_271-1del
ENST00000607161.5:c.273+1_274-1del
ENST00000611981.1:n.281+1_282-1del
ENST00000620255.1:n.260_370del
NM_006331.7:c.270+1_271-1del
XM_011520907.1:c.270+1_271-1del
NM_001320049.1:c.270+1_271-1del
NR_135131.1:n.413+1_414-1del
NM_006331.8:c.270+1_271-1del
NM_001320049.2:c.270+1_271-1del
NR_135131.2:n.281+1_282-1del