Canonical Allele Identifier: CA2683556089
Gene: SEMA3E HGNC NCBI

Linked Data

gnomAD v4: 7-83392470-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83392474del , CM000669.2:g.83392474del GRCh38
NC_000007.13:g.83021790del , CM000669.1:g.83021790del GRCh37
NC_000007.12:g.82859726del NCBI36
NG_021242.1:g.261693del
NG_021242.2:g.261693del

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.1487+84del ENSP00000405052.1:n.1487+84del
ENST00000642232.1:c.1667+84del ENSP00000494064.1:n.1667+84del
ENST00000643230.2:c.1667+84del MANE Select ENSP00000496491.1:n.1667+84del
ENST00000643441.1:n.1652+84del
ENST00000307792.7:c.1667+84del ENSP00000303212.3:n.1667+84del
ENST00000427262.5:c.1487+84del ENSP00000405052.1:n.1487+84del
NM_001178129.1:c.1487+84del NP_001171600.1:n.1487+84del
NM_012431.2:c.1667+84del NP_036563.1:n.1667+84del
XM_011516715.1:c.1667+84del XP_011515017.1:n.1667+84del
NM_012431.3:c.1667+84del MANE Select NP_036563.1:n.1667+84del
NM_001178129.2:c.1487+84del NP_001171600.1:n.1487+84del
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