Canonical Allele Identifier: CA645369639
Gene: KIF1C HGNC NCBI

Linked Data

ClinVar Variation Id: 265862
ClinVar RCV Id: RCV000492986 RCV001267982
dbSNP Id: rs1131690773
gnomAD v4: 17-5022558-GA-G
MyVariant Identifiers: chr17:g.4925854del (hg19) chr17:g.5022559del (hg38)
PubMed: PMID:28687974
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022559del , CM000679.2:g.5022559del GRCh38
NC_000017.10:g.4925854del , CM000679.1:g.4925854del GRCh37
NC_000017.9:g.4866578del NCBI36
NG_034137.1:g.29612del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2478del MANE Select ENSP00000320821.5:p.Ala828ArgfsTer13
ENST00000320785.9:c.2478del ENSP00000320821.5:p.Ala828ArgfsTer13
NM_006612.5:c.2478del NP_006603.2:p.Ala828ArgfsTer13
XM_005256424.1:c.2478del XP_005256481.1:p.Ala828ArgfsTer13
XM_005256424.2:c.2478del XP_005256481.1:p.Ala828ArgfsTer13
NM_006612.6:c.2478del MANE Select NP_006603.2:p.Ala828ArgfsTer13
Search 100 bp 5'
Search 100 bp 3'