Canonical Allele Identifier: CA161161927

Gene: SEMA3E

Linked Data

• dbSNP Id: rs75208711
• gnomAD v4: 7-83392498-AAAAG-A
• COSMIC: COSN2535126
• MyVariant Identifiers: chr7:g.83021815_83021818del (hg19) ; chr7:g.83392499_83392502del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392499_83392502del , CM000669.2:g.83392499_83392502del	GRCh38
NC_000007.13:g.83021815_83021818del , CM000669.1:g.83021815_83021818del	GRCh37
NC_000007.12:g.82859751_82859754del	NCBI36
NG_021242.1:g.261662_261665del
NG_021242.2:g.261662_261665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1487+53_1487+56del	ENSP00000405052.1:n.1487+53_1487+56del
ENST00000642232.1:c.1667+53_1667+56del	ENSP00000494064.1:n.1667+53_1667+56del
ENST00000643230.2:c.1667+53_1667+56del MANE Select	ENSP00000496491.1:n.1667+53_1667+56del
ENST00000643441.1:n.1652+53_1652+56del
ENST00000307792.7:c.1667+53_1667+56del	ENSP00000303212.3:n.1667+53_1667+56del
ENST00000427262.5:c.1487+53_1487+56del	ENSP00000405052.1:n.1487+53_1487+56del
NM_001178129.1:c.1487+53_1487+56del	NP_001171600.1:n.1487+53_1487+56del
NM_012431.2:c.1667+53_1667+56del	NP_036563.1:n.1667+53_1667+56del
XM_011516715.1:c.1667+53_1667+56del	XP_011515017.1:n.1667+53_1667+56del
NM_012431.3:c.1667+53_1667+56del MANE Select	NP_036563.1:n.1667+53_1667+56del
NM_001178129.2:c.1487+53_1487+56del	NP_001171600.1:n.1487+53_1487+56del