Canonical Allele Identifier: CA2600920548

Gene: SEMA3E

Linked Data

• gnomAD v3: 7-83392480-AGT-A
• gnomAD v4: 7-83392480-AGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392481_83392482del , CM000669.2:g.83392481_83392482del	GRCh38
NC_000007.13:g.83021797_83021798del , CM000669.1:g.83021797_83021798del	GRCh37
NC_000007.12:g.82859733_82859734del	NCBI36
NG_021242.1:g.261682_261683del
NG_021242.2:g.261682_261683del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1487+73_1487+74del	ENSP00000405052.1:n.1487+73_1487+74del
ENST00000642232.1:c.1667+73_1667+74del	ENSP00000494064.1:n.1667+73_1667+74del
ENST00000643230.2:c.1667+73_1667+74del MANE Select	ENSP00000496491.1:n.1667+73_1667+74del
ENST00000643441.1:n.1652+73_1652+74del
ENST00000307792.7:c.1667+73_1667+74del	ENSP00000303212.3:n.1667+73_1667+74del
ENST00000427262.5:c.1487+73_1487+74del	ENSP00000405052.1:n.1487+73_1487+74del
NM_001178129.1:c.1487+73_1487+74del	NP_001171600.1:n.1487+73_1487+74del
NM_012431.2:c.1667+73_1667+74del	NP_036563.1:n.1667+73_1667+74del
XM_011516715.1:c.1667+73_1667+74del	XP_011515017.1:n.1667+73_1667+74del
NM_012431.3:c.1667+73_1667+74del MANE Select	NP_036563.1:n.1667+73_1667+74del
NM_001178129.2:c.1487+73_1487+74del	NP_001171600.1:n.1487+73_1487+74del