Canonical Allele Identifier: CA658797434

Gene: UNC5B

Linked Data

• ClinVar Variation Id: 504031
• ClinVar RCV Id: RCV000598638
• dbSNP Id: rs1554811228
• MyVariant Identifiers: chr10:g.73056343del (hg19) ; chr10:g.71296586del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71296586del , CM000672.2:g.71296586del	GRCh38
NC_000010.10:g.73056343del , CM000672.1:g.73056343del	GRCh37
NC_000010.9:g.72726349del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335350.10:c.2334del MANE Select	ENSP00000334329.6:p.Phe779SerfsTer?
ENST00000373192.4:c.2301del	ENSP00000362288.4:p.Phe768SerfsTer?
NM_001244889.1:c.2301del	NP_001231818.1:p.Phe768SerfsTer?
NM_170744.4:c.2334del	NP_734465.2:p.Phe779SerfsTer?
XM_011539453.1:c.2319del	XP_011537755.1:p.Phe774SerfsTer?
XR_945617.1:n.2785del
XM_011539453.2:c.2319del	XP_011537755.1:p.Phe774SerfsTer?
XM_017015834.2:c.1356del	XP_016871323.1:p.Phe453SerfsTer?
XM_017015835.2:c.1356del	XP_016871324.1:p.Phe453SerfsTer?
XR_002956966.1:n.3402del
NM_170744.5:c.2334del MANE Select	NP_734465.2:p.Phe779SerfsTer?
NM_001244889.2:c.2301del	NP_001231818.1:p.Phe768SerfsTer?