Canonical Allele Identifier: CA575817195

Gene: SEMA3E

Linked Data

• dbSNP Id: rs1490058729
• gnomAD v2: 7-83036820-A-AAAC
• gnomAD v3: 7-83407504-A-AAAC
• gnomAD v4: 7-83407504-A-AAAC
• MyVariant Identifiers: chr7:g.83036820_83036821insAAC (hg19) ; chr7:g.83407504_83407505insAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407509_83407511dup , CM000669.2:g.83407509_83407511dup	GRCh38
NC_000007.13:g.83036825_83036827dup , CM000669.1:g.83036825_83036827dup	GRCh37
NC_000007.12:g.82874761_82874763dup	NCBI36
NG_021242.1:g.246657_246659dup
NG_021242.2:g.246657_246659dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.491-268_491-266dup	ENSP00000405052.1:n.491-268_491-266dup
ENST00000642232.1:c.671-268_671-266dup	ENSP00000494064.1:n.671-268_671-266dup
ENST00000643230.2:c.671-268_671-266dup MANE Select	ENSP00000496491.1:n.671-268_671-266dup
ENST00000643441.1:n.656-268_656-266dup
ENST00000644381.1:n.234-268_234-266dup
ENST00000307792.7:c.671-268_671-266dup	ENSP00000303212.3:n.671-268_671-266dup
ENST00000427262.5:c.491-268_491-266dup	ENSP00000405052.1:n.491-268_491-266dup
NM_001178129.1:c.491-268_491-266dup	NP_001171600.1:n.491-268_491-266dup
NM_012431.2:c.671-268_671-266dup	NP_036563.1:n.671-268_671-266dup
XM_011516715.1:c.671-268_671-266dup	XP_011515017.1:n.671-268_671-266dup
NM_012431.3:c.671-268_671-266dup MANE Select	NP_036563.1:n.671-268_671-266dup
NM_001178129.2:c.491-268_491-266dup	NP_001171600.1:n.491-268_491-266dup