Canonical Allele Identifier: CA1721661834

Gene: SEMA3E

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392504_83392510delinsATTAGGG , CM000669.2:g.83392504_83392510delinsATTAGGG	GRCh38
NC_000007.13:g.83021820_83021826delinsATTAGGG , CM000669.1:g.83021820_83021826delinsATTAGGG	GRCh37
NC_000007.12:g.82859756_82859762delinsATTAGGG	NCBI36
NG_021242.1:g.261654_261660delinsCCCTAAT
NG_021242.2:g.261654_261660delinsCCCTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1487+45_1487+51delinsCCCTAAT	ENSP00000405052.1:n.1487+45_1487+51delinsCCCTAAT
ENST00000642232.1:c.1667+45_1667+51delinsCCCTAAT	ENSP00000494064.1:n.1667+45_1667+51delinsCCCTAAT
ENST00000643230.2:c.1667+45_1667+51delinsCCCTAAT MANE Select	ENSP00000496491.1:n.1667+45_1667+51delinsCCCTAAT
ENST00000643441.1:n.1652+45_1652+51delinsCCCTAAT
ENST00000307792.7:c.1667+45_1667+51delinsCCCTAAT	ENSP00000303212.3:n.1667+45_1667+51delinsCCCTAAT
ENST00000427262.5:c.1487+45_1487+51delinsCCCTAAT	ENSP00000405052.1:n.1487+45_1487+51delinsCCCTAAT
NM_001178129.1:c.1487+45_1487+51delinsCCCTAAT	NP_001171600.1:n.1487+45_1487+51delinsCCCTAAT
NM_012431.2:c.1667+45_1667+51delinsCCCTAAT	NP_036563.1:n.1667+45_1667+51delinsCCCTAAT
XM_011516715.1:c.1667+45_1667+51delinsCCCTAAT	XP_011515017.1:n.1667+45_1667+51delinsCCCTAAT
NM_012431.3:c.1667+45_1667+51delinsCCCTAAT MANE Select	NP_036563.1:n.1667+45_1667+51delinsCCCTAAT
NM_001178129.2:c.1487+45_1487+51delinsCCCTAAT	NP_001171600.1:n.1487+45_1487+51delinsCCCTAAT