Canonical Allele Identifier: CA4322241

Gene: SEMA3E

Linked Data

• dbSNP Id: rs779472462
• ExAC: 7:83036557 TATAGGAGCAAAAA / T
• gnomAD v2: 7-83036557-TATAGGAGCAAAAA-T
• gnomAD v4: 7-83407241-TATAGGAGCAAAAA-T
• MyVariant Identifiers: chr7:g.83036558_83036570del (hg19) ; chr7:g.83407242_83407254del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407249_83407261del , CM000669.2:g.83407249_83407261del	GRCh38
NC_000007.13:g.83036565_83036577del , CM000669.1:g.83036565_83036577del	GRCh37
NC_000007.12:g.82874501_82874513del	NCBI36
NG_021242.1:g.246910_246922del
NG_021242.2:g.246910_246922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.491-15_491-3del	ENSP00000405052.1:n.491-15_491-3del
ENST00000642232.1:c.671-15_671-3del	ENSP00000494064.1:n.671-15_671-3del
ENST00000643230.2:c.671-15_671-3del MANE Select	ENSP00000496491.1:n.671-15_671-3del
ENST00000643441.1:n.656-15_656-3del
ENST00000644381.1:n.234-15_234-3del
ENST00000307792.7:c.671-15_671-3del	ENSP00000303212.3:n.671-15_671-3del
ENST00000427262.5:c.491-15_491-3del	ENSP00000405052.1:n.491-15_491-3del
NM_001178129.1:c.491-15_491-3del	NP_001171600.1:n.491-15_491-3del
NM_012431.2:c.671-15_671-3del	NP_036563.1:n.671-15_671-3del
XM_011516715.1:c.671-15_671-3del	XP_011515017.1:n.671-15_671-3del
NM_012431.3:c.671-15_671-3del MANE Select	NP_036563.1:n.671-15_671-3del
NM_001178129.2:c.491-15_491-3del	NP_001171600.1:n.491-15_491-3del