Canonical Allele Identifier: CA2549905498

Gene: SEMA3E

Linked Data

• gnomAD v3: 7-83392476-TTC-T
• gnomAD v4: 7-83392476-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392477_83392478del , CM000669.2:g.83392477_83392478del	GRCh38
NC_000007.13:g.83021793_83021794del , CM000669.1:g.83021793_83021794del	GRCh37
NC_000007.12:g.82859729_82859730del	NCBI36
NG_021242.1:g.261686_261687del
NG_021242.2:g.261686_261687del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1487+77_1487+78del	ENSP00000405052.1:n.1487+77_1487+78del
ENST00000642232.1:c.1667+77_1667+78del	ENSP00000494064.1:n.1667+77_1667+78del
ENST00000643230.2:c.1667+77_1667+78del MANE Select	ENSP00000496491.1:n.1667+77_1667+78del
ENST00000643441.1:n.1652+77_1652+78del
ENST00000307792.7:c.1667+77_1667+78del	ENSP00000303212.3:n.1667+77_1667+78del
ENST00000427262.5:c.1487+77_1487+78del	ENSP00000405052.1:n.1487+77_1487+78del
NM_001178129.1:c.1487+77_1487+78del	NP_001171600.1:n.1487+77_1487+78del
NM_012431.2:c.1667+77_1667+78del	NP_036563.1:n.1667+77_1667+78del
XM_011516715.1:c.1667+77_1667+78del	XP_011515017.1:n.1667+77_1667+78del
NM_012431.3:c.1667+77_1667+78del MANE Select	NP_036563.1:n.1667+77_1667+78del
NM_001178129.2:c.1487+77_1487+78del	NP_001171600.1:n.1487+77_1487+78del