Canonical Allele Identifier: CA2521983536

Gene: SEMA5B

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123019394del , CM000665.2:g.123019394del	GRCh38
NC_000003.11:g.122738241del , CM000665.1:g.122738241del	GRCh37
NC_000003.10:g.124220931del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357599.8:c.-39+8070del MANE Select	ENSP00000350215.3:n.-39+8070del
ENST00000648990.1:c.-51+8070del	ENSP00000497595.1:n.-51+8070del
ENST00000649167.1:n.248+8070del
ENST00000195173.8:c.-51+8070del	ENSP00000195173.5:n.-51+8070del
ENST00000357599.7:c.-39+8070del	ENSP00000350215.3:n.-39+8070del
ENST00000421053.5:c.-39+7704del	ENSP00000401056.1:n.-39+7704del
ENST00000465147.1:n.303+8070del
ENST00000475244.5:c.-39+9053del	ENSP00000417570.1:n.-39+9053del
ENST00000477001.1:n.115+8070del
NM_001031702.3:c.-39+8070del	NP_001026872.2:n.-39+8070del
NM_001256348.1:c.-51+8070del	NP_001243277.1:n.-51+8070del
NR_046079.1:n.159+9053del
XM_011512918.1:c.-51+8070del	XP_011511220.1:n.-51+8070del
XR_924407.1:n.12-2618del
XM_017006639.1:c.-51+8070del	XP_016862128.1:n.-51+8070del
NM_001031702.4:c.-39+8070del MANE Select	NP_001026872.2:n.-39+8070del
NM_001256348.2:c.-51+8070del	NP_001243277.1:n.-51+8070del
NR_046079.2:n.159+9053del