Canonical Allele Identifier: CA2580611131
Gene: KIF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1578303
ClinVar RCV Id: RCV002090531
dbSNP Id: rs2102354381

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10368461_10368463del , CM000663.2:g.10368461_10368463del GRCh38
NC_000001.10:g.10428519_10428521del , CM000663.1:g.10428519_10428521del GRCh37
NC_000001.9:g.10351106_10351108del NCBI36
NG_008069.1:g.162756_162758del , LRG_252:g.162756_162758del

Transcript Alleles

HGVS Amino-acid change
ENST00000696502.1:c.4816-6_4816-4del ENSP00000512668.1:n.4816-6_4816-4del
ENST00000696503.1:c.4678-6_4678-4del ENSP00000512669.1:n.4678-6_4678-4del
ENST00000696504.1:c.4678-6_4678-4del ENSP00000512670.1:n.4678-6_4678-4del
ENST00000676179.1:c.4753-6_4753-4del MANE Select ENSP00000502065.1:n.4753-6_4753-4del
ENST00000263934.10:c.4615-6_4615-4del ENSP00000263934.6:n.4615-6_4615-4del
ENST00000377081.5:c.4753-6_4753-4del ENSP00000366284.1:n.4753-6_4753-4del
ENST00000377086.5:c.4753-6_4753-4del ENSP00000366290.1:n.4753-6_4753-4del
ENST00000470616.1:n.484-6_484-4del
ENST00000620295.2:c.4711-6_4711-4del ENSP00000478500.1:n.4711-6_4711-4del
ENST00000622724.3:c.4675-6_4675-4del ENSP00000480063.1:n.4675-6_4675-4del
ENST00000635499.1:c.798-6_798-4del
NM_015074.3:c.4615-6_4615-4del , LRG_252t1:c.4615-6_4615-4del NP_055889.2:n.4615-6_4615-4del
NM_001365951.1:c.4753-6_4753-4del NP_001352880.1:n.4753-6_4753-4del
NM_001365952.1:c.4753-6_4753-4del NP_001352881.1:n.4753-6_4753-4del
NM_001365951.3:c.4753-6_4753-4del MANE Select NP_001352880.1:n.4753-6_4753-4del