Canonical Allele Identifier: CA1398209834
Gene: SEMA5B HGNC NCBI

Linked Data

dbSNP Id: rs1942628588

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123019407del , CM000665.2:g.123019407del GRCh38
NC_000003.11:g.122738254del , CM000665.1:g.122738254del GRCh37
NC_000003.10:g.124220944del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357599.8:c.-39+8059del MANE Select ENSP00000350215.3:n.-39+8059del
ENST00000648990.1:c.-51+8059del ENSP00000497595.1:n.-51+8059del
ENST00000649167.1:n.248+8059del
ENST00000195173.8:c.-51+8059del ENSP00000195173.5:n.-51+8059del
ENST00000357599.7:c.-39+8059del ENSP00000350215.3:n.-39+8059del
ENST00000421053.5:c.-39+7693del ENSP00000401056.1:n.-39+7693del
ENST00000465147.1:n.303+8059del
ENST00000475244.5:c.-39+9042del ENSP00000417570.1:n.-39+9042del
ENST00000477001.1:n.115+8059del
NM_001031702.3:c.-39+8059del NP_001026872.2:n.-39+8059del
NM_001256348.1:c.-51+8059del NP_001243277.1:n.-51+8059del
NR_046079.1:n.159+9042del
XM_011512918.1:c.-51+8059del XP_011511220.1:n.-51+8059del
XR_924407.1:n.12-2605del
XM_017006639.1:c.-51+8059del XP_016862128.1:n.-51+8059del
NM_001031702.4:c.-39+8059del MANE Select NP_001026872.2:n.-39+8059del
NM_001256348.2:c.-51+8059del NP_001243277.1:n.-51+8059del
NR_046079.2:n.159+9042del