Canonical Allele Identifier: CA916106853
Gene: KIF1B HGNC NCBI

Linked Data

dbSNP Id: rs1569940076
gnomAD v4: 1-10378724-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10378725del , CM000663.2:g.10378725del GRCh38
NC_000001.10:g.10438783del , CM000663.1:g.10438783del GRCh37
NC_000001.9:g.10361370del NCBI36
NG_008069.1:g.173020del , LRG_252:g.173020del

Transcript Alleles

HGVS Amino-acid Change
ENST00000676179.1:c.*2138del MANE Select ENSP00000502065.1:n.*2138del
ENST00000377081.5:c.*323del ENSP00000366284.1:n.*323del
ENST00000377086.5:c.*2138del ENSP00000366290.1:n.*2138del
ENST00000620295.2:c.5753del ENSP00000478500.1:n.5753del
ENST00000622724.3:c.5717del ENSP00000480063.1:n.5717del
NM_015074.3:c.*2138del , LRG_252t1:c.*2138del NP_055889.2:n.*2138del
NM_001365951.1:c.*2138del NP_001352880.1:n.*2138del
NM_001365952.1:c.*2138del NP_001352881.1:n.*2138del
NM_001365951.3:c.*2138del MANE Select NP_001352880.1:n.*2138del
Search 100 bp 5'
Search 100 bp 3'