Canonical Allele Identifier: CA2573152988

Linked Data

ClinVar Variation Id: 1406903
ClinVar RCV Id: RCV001918167
dbSNP Id: rs2143313439

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5002635_5002638del , CM000679.2:g.5002635_5002638del GRCh38
NC_000017.10:g.4905930_4905933del , CM000679.1:g.4905930_4905933del GRCh37
NC_000017.9:g.4846654_4846657del NCBI36
NG_034137.1:g.9688_9691del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.601_604del (KIF1C) MANE Select ENSP00000320821.5:p.Lys201HisfsTer9
ENST00000320785.9:c.601_604del (KIF1C) ENSP00000320821.5:p.Lys201HisfsTer9
NM_006612.5:c.601_604del (KIF1C) NP_006603.2:p.Lys201HisfsTer9
XM_005256424.1:c.601_604del (KIF1C) XP_005256481.1:p.Lys201HisfsTer9
XM_005256424.2:c.601_604del (KIF1C) XP_005256481.1:p.Lys201HisfsTer9
XM_024450745.1:c.-39+3444_-39+3447del (INCA1) XP_024306513.1:n.-39+3444_-39+3447del
NM_006612.6:c.601_604del (KIF1C) MANE Select NP_006603.2:p.Lys201HisfsTer9