Canonical Allele Identifier: CA2683556138

Gene: SEMA3E

Linked Data

• gnomAD v4: 7-83392562-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392563dup , CM000669.2:g.83392563dup	GRCh38
NC_000007.13:g.83021879dup , CM000669.1:g.83021879dup	GRCh37
NC_000007.12:g.82859815dup	NCBI36
NG_021242.1:g.261601dup
NG_021242.2:g.261601dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1479dup	ENSP00000405052.1:p.Ala494CysfsTer?
ENST00000642232.1:c.1659dup	ENSP00000494064.1:p.Ala554CysfsTer?
ENST00000643230.2:c.1659dup MANE Select	ENSP00000496491.1:p.Ala554CysfsTer?
ENST00000643441.1:n.1644dup
ENST00000307792.7:c.1659dup	ENSP00000303212.3:p.Ala554CysfsTer?
ENST00000427262.5:c.1479dup	ENSP00000405052.1:p.Ala494CysfsTer?
NM_001178129.1:c.1479dup	NP_001171600.1:p.Ala494CysfsTer?
NM_012431.2:c.1659dup	NP_036563.1:p.Ala554CysfsTer?
XM_011516715.1:c.1659dup	XP_011515017.1:p.Ala554CysfsTer?
NM_012431.3:c.1659dup MANE Select	NP_036563.1:p.Ala554CysfsTer?
NM_001178129.2:c.1479dup	NP_001171600.1:p.Ala494CysfsTer?