Canonical Allele Identifier: CA161162053

Gene: SEMA3E

Linked Data

• dbSNP Id: rs868444629
• MyVariant Identifiers: chr7:g.83021872del (hg19) ; chr7:g.83392557del (hg38) ; chr7:g.83392556del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392560del , CM000669.2:g.83392560del	GRCh38
NC_000007.13:g.83021876del , CM000669.1:g.83021876del	GRCh37
NC_000007.12:g.82859812del	NCBI36
NG_021242.1:g.261608del
NG_021242.2:g.261608del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1486del	ENSP00000405052.1:p.Arg496GlyfsTer?
ENST00000642232.1:c.1666del	ENSP00000494064.1:p.Arg556GlyfsTer?
ENST00000643230.2:c.1666del MANE Select	ENSP00000496491.1:p.Arg556GlyfsTer?
ENST00000643441.1:n.1651del
ENST00000307792.7:c.1666del	ENSP00000303212.3:p.Arg556GlyfsTer?
ENST00000427262.5:c.1486del	ENSP00000405052.1:p.Arg496GlyfsTer?
NM_001178129.1:c.1486del	NP_001171600.1:p.Arg496GlyfsTer?
NM_012431.2:c.1666del	NP_036563.1:p.Arg556GlyfsTer?
XM_011516715.1:c.1666del	XP_011515017.1:p.Arg556GlyfsTer?
NM_012431.3:c.1666del MANE Select	NP_036563.1:p.Arg556GlyfsTer?
NM_001178129.2:c.1486del	NP_001171600.1:p.Arg496GlyfsTer?