Canonical Allele Identifier: CA624617222

Gene: KIF1C

Linked Data

• dbSNP Id: rs1567728936
• gnomAD v2: 17-4925909-CAG-C
• gnomAD v4: 17-5022614-CAG-C
• MyVariant Identifiers: chr17:g.4925910_4925911del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5022615_5022616del , CM000679.2:g.5022615_5022616del	GRCh38
NC_000017.10:g.4925910_4925911del , CM000679.1:g.4925910_4925911del	GRCh37
NC_000017.9:g.4866634_4866635del	NCBI36
NG_034137.1:g.29668_29669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320785.10:c.2534_2535del MANE Select	ENSP00000320821.5:p.Gln845ArgfsTer?
ENST00000320785.9:c.2534_2535del	ENSP00000320821.5:p.Gln845ArgfsTer?
NM_006612.5:c.2534_2535del	NP_006603.2:p.Gln845ArgfsTer?
XM_005256424.1:c.2534_2535del	XP_005256481.1:p.Gln845ArgfsTer?
XM_005256424.2:c.2534_2535del	XP_005256481.1:p.Gln845ArgfsTer?
NM_006612.6:c.2534_2535del MANE Select	NP_006603.2:p.Gln845ArgfsTer?