Canonical Allele Identifier: CA575816831

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 2862926
• ClinVar RCV Id: RCV003605103
• dbSNP Id: rs1330813273
• gnomAD v2: 7-83036390-CATA-C
• gnomAD v3: 7-83407074-CATA-C
• gnomAD v4: 7-83407074-CATA-C
• MyVariant Identifiers: chr7:g.83036391_83036393del (hg19) ; chr7:g.83407075_83407077del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407077_83407079del , CM000669.2:g.83407077_83407079del	GRCh38
NC_000007.13:g.83036393_83036395del , CM000669.1:g.83036393_83036395del	GRCh37
NC_000007.12:g.82874329_82874331del	NCBI36
NG_021242.1:g.247087_247089del
NG_021242.2:g.247087_247089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.633+20_633+22del	ENSP00000405052.1:n.633+20_633+22del
ENST00000642232.1:c.813+20_813+22del	ENSP00000494064.1:n.813+20_813+22del
ENST00000643230.2:c.813+20_813+22del MANE Select	ENSP00000496491.1:n.813+20_813+22del
ENST00000643441.1:n.798+20_798+22del
ENST00000307792.7:c.813+20_813+22del	ENSP00000303212.3:n.813+20_813+22del
ENST00000427262.5:c.633+20_633+22del	ENSP00000405052.1:n.633+20_633+22del
NM_001178129.1:c.633+20_633+22del	NP_001171600.1:n.633+20_633+22del
NM_012431.2:c.813+20_813+22del	NP_036563.1:n.813+20_813+22del
XM_011516715.1:c.813+20_813+22del	XP_011515017.1:n.813+20_813+22del
NM_012431.3:c.813+20_813+22del MANE Select	NP_036563.1:n.813+20_813+22del
NM_001178129.2:c.633+20_633+22del	NP_001171600.1:n.633+20_633+22del