Canonical Allele Identifier: CA2578926465
Gene: SEMA3E HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83392502_83392503del , CM000669.2:g.83392502_83392503del GRCh38
NC_000007.13:g.83021818_83021819del , CM000669.1:g.83021818_83021819del GRCh37
NC_000007.12:g.82859754_82859755del NCBI36
NG_021242.1:g.261661_261662del
NG_021242.2:g.261661_261662del

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.1487+52_1487+53del ENSP00000405052.1:n.1487+52_1487+53del
ENST00000642232.1:c.1667+52_1667+53del ENSP00000494064.1:n.1667+52_1667+53del
ENST00000643230.2:c.1667+52_1667+53del MANE Select ENSP00000496491.1:n.1667+52_1667+53del
ENST00000643441.1:n.1652+52_1652+53del
ENST00000307792.7:c.1667+52_1667+53del ENSP00000303212.3:n.1667+52_1667+53del
ENST00000427262.5:c.1487+52_1487+53del ENSP00000405052.1:n.1487+52_1487+53del
NM_001178129.1:c.1487+52_1487+53del NP_001171600.1:n.1487+52_1487+53del
NM_012431.2:c.1667+52_1667+53del NP_036563.1:n.1667+52_1667+53del
XM_011516715.1:c.1667+52_1667+53del XP_011515017.1:n.1667+52_1667+53del
NM_012431.3:c.1667+52_1667+53del MANE Select NP_036563.1:n.1667+52_1667+53del
NM_001178129.2:c.1487+52_1487+53del NP_001171600.1:n.1487+52_1487+53del