Canonical Allele Identifier: CA624857081
Gene: KIF1C HGNC NCBI

Linked Data

dbSNP Id: rs1245227405
gnomAD v2: 17-4925559-TC-T
gnomAD v4: 17-5022264-TC-T
MyVariant Identifiers: chr17:g.4925560del (hg19) chr17:g.5022265del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5022269del , CM000679.2:g.5022269del GRCh38
NC_000017.10:g.4925564del , CM000679.1:g.4925564del GRCh37
NC_000017.9:g.4866288del NCBI36
NG_034137.1:g.29322del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.2188del MANE Select ENSP00000320821.5:p.Gln730SerfsTer18
ENST00000320785.9:c.2188del ENSP00000320821.5:p.Gln730SerfsTer18
NM_006612.5:c.2188del NP_006603.2:p.Gln730SerfsTer18
XM_005256424.1:c.2188del XP_005256481.1:p.Gln730SerfsTer18
XM_005256424.2:c.2188del XP_005256481.1:p.Gln730SerfsTer18
NM_006612.6:c.2188del MANE Select NP_006603.2:p.Gln730SerfsTer18
Search 100 bp 5'
Search 100 bp 3'