Canonical Allele Identifier: CA2187679212
Gene: SEMA7A HGNC NCBI

Linked Data

dbSNP Id: rs2060966347

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74417938del , CM000677.2:g.74417938del GRCh38
NC_000015.9:g.74710279del , CM000677.1:g.74710279del GRCh37
NC_000015.8:g.72497332del NCBI36
NG_011733.1:g.21022del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261918.9:c.405del MANE Select ENSP00000261918.4:p.Arg135SerfsTer22
ENST00000542748.6:c.-91del ENSP00000441493.1:n.-91del
ENST00000261918.8:c.405del ENSP00000261918.4:p.Arg135SerfsTer22
ENST00000542748.5:c.-91del ENSP00000441493.1:n.-91del
ENST00000543145.6:c.363del ENSP00000438966.2:p.Arg121SerfsTer22
ENST00000567345.1:c.-91del ENSP00000454365.1:n.-91del
NM_001146029.1:c.363del NP_001139501.1:p.Arg121SerfsTer22
NM_001146030.1:c.-91del NP_001139502.1:n.-91del
NM_003612.3:c.405del NP_003603.1:p.Arg135SerfsTer22
NM_001146029.2:c.363del NP_001139501.1:p.Arg121SerfsTer22
NM_001146030.2:c.-91del NP_001139502.1:n.-91del
NM_003612.4:c.405del NP_003603.1:p.Arg135SerfsTer22
NM_003612.5:c.405del MANE Select NP_003603.1:p.Arg135SerfsTer22
NM_001146029.3:c.363del NP_001139501.1:p.Arg121SerfsTer22
NM_001146030.3:c.-91del NP_001139502.1:n.-91del