Canonical Allele Identifier: CA1721661822

Gene: SEMA3E

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392499_83392503delinsAAAGC , CM000669.2:g.83392499_83392503delinsAAAGC	GRCh38
NC_000007.13:g.83021815_83021819delinsAAAGC , CM000669.1:g.83021815_83021819delinsAAAGC	GRCh37
NC_000007.12:g.82859751_82859755delinsAAAGC	NCBI36
NG_021242.1:g.261661_261665delinsGCTTT
NG_021242.2:g.261661_261665delinsGCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1487+52_1487+56delinsGCTTT	ENSP00000405052.1:n.1487+52_1487+56delinsGCTTT
ENST00000642232.1:c.1667+52_1667+56delinsGCTTT	ENSP00000494064.1:n.1667+52_1667+56delinsGCTTT
ENST00000643230.2:c.1667+52_1667+56delinsGCTTT MANE Select	ENSP00000496491.1:n.1667+52_1667+56delinsGCTTT
ENST00000643441.1:n.1652+52_1652+56delinsGCTTT
ENST00000307792.7:c.1667+52_1667+56delinsGCTTT	ENSP00000303212.3:n.1667+52_1667+56delinsGCTTT
ENST00000427262.5:c.1487+52_1487+56delinsGCTTT	ENSP00000405052.1:n.1487+52_1487+56delinsGCTTT
NM_001178129.1:c.1487+52_1487+56delinsGCTTT	NP_001171600.1:n.1487+52_1487+56delinsGCTTT
NM_012431.2:c.1667+52_1667+56delinsGCTTT	NP_036563.1:n.1667+52_1667+56delinsGCTTT
XM_011516715.1:c.1667+52_1667+56delinsGCTTT	XP_011515017.1:n.1667+52_1667+56delinsGCTTT
NM_012431.3:c.1667+52_1667+56delinsGCTTT MANE Select	NP_036563.1:n.1667+52_1667+56delinsGCTTT
NM_001178129.2:c.1487+52_1487+56delinsGCTTT	NP_001171600.1:n.1487+52_1487+56delinsGCTTT