Canonical Allele Identifier: CA4322209

Gene: SEMA3E

Linked Data

• dbSNP Id: rs755681541
• ExAC: 7:83036417 CAG / C
• gnomAD v4: 7-83407101-CAG-C
• MyVariant Identifiers: chr7:g.83036418_83036419del (hg19) ; chr7:g.83407102_83407103del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407104_83407105del , CM000669.2:g.83407104_83407105del	GRCh38
NC_000007.13:g.83036420_83036421del , CM000669.1:g.83036420_83036421del	GRCh37
NC_000007.12:g.82874356_82874357del	NCBI36
NG_021242.1:g.247061_247062del
NG_021242.2:g.247061_247062del

Transcript Alleles

HGVS	Amino-acid change
ENST00000427262.6:c.627_628del	ENSP00000405052.1:p.Val211GlufsTer2
ENST00000642232.1:c.807_808del	ENSP00000494064.1:p.Val271GlufsTer2
ENST00000643230.2:c.807_808del MANE Select	ENSP00000496491.1:p.Val271GlufsTer2
ENST00000643441.1:n.792_793del
ENST00000307792.7:c.807_808del	ENSP00000303212.3:p.Val271GlufsTer2
ENST00000427262.5:c.627_628del	ENSP00000405052.1:p.Val211GlufsTer2
NM_001178129.1:c.627_628del	NP_001171600.1:p.Val211GlufsTer2
NM_012431.2:c.807_808del	NP_036563.1:p.Val271GlufsTer2
XM_011516715.1:c.807_808del	XP_011515017.1:p.Val271GlufsTer2
NM_012431.3:c.807_808del MANE Select	NP_036563.1:p.Val271GlufsTer2
NM_001178129.2:c.627_628del	NP_001171600.1:p.Val211GlufsTer2