Canonical Allele Identifier: CA2038924974
Gene: KIF5A HGNC NCBI

Linked Data

dbSNP Id: rs1882158145

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57569002_57569003insGCCAGCAATGGCTCGGTGACGTCGACC , CM000674.2:g.57569002_57569003insGCCAGCAATGGCTCGGTGACGTCGACC GRCh38
NC_000012.11:g.57962785_57962786insGCCAGCAATGGCTCGGTGACGTCGACC , CM000674.1:g.57962785_57962786insGCCAGCAATGGCTCGGTGACGTCGACC GRCh37
NC_000012.10:g.56249052_56249053insGCCAGCAATGGCTCGGTGACGTCGACC NCBI36
NG_008155.1:g.23939_23940insGCCAGCAATGGCTCGGTGACGTCGACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.754_755insGCCAGCAATGGCTCGGTGACGTCGACC MANE Select ENSP00000408979.2:p.Ala252delinsGlyGlnGlnTrpLeuGlyAspValAspPr...
ENST00000674619.1:c.754_755insGCCAGCAATGGCTCGGTGACGTCGACC ENSP00000502270.1:p.Ala252delinsGlyGlnGlnTrpLeuGlyAspValAspPr...
ENST00000676457.1:c.649_650insGCCAGCAATGGCTCGGTGACGTCGACC ENSP00000501588.1:p.Ala217delinsGlyGlnGlnTrpLeuGlyAspValAspPr...
ENST00000286452.5:c.487_488insGCCAGCAATGGCTCGGTGACGTCGACC ENSP00000286452.5:p.Ala163delinsGlyGlnGlnTrpLeuGlyAspValAspPr...
ENST00000455537.6:c.754_755insGCCAGCAATGGCTCGGTGACGTCGACC ENSP00000408979.2:p.Ala252delinsGlyGlnGlnTrpLeuGlyAspValAspPr...
NM_004984.2:c.754_755insGCCAGCAATGGCTCGGTGACGTCGACC NP_004975.2:p.Ala252delinsGlyGlnGlnTrpLeuGlyAspValAspPro
NM_001354705.1:c.487_488insGCCAGCAATGGCTCGGTGACGTCGACC NP_001341634.1:p.Ala163delinsGlyGlnGlnTrpLeuGlyAspValAspPro
NM_004984.3:c.754_755insGCCAGCAATGGCTCGGTGACGTCGACC NP_004975.2:p.Ala252delinsGlyGlnGlnTrpLeuGlyAspValAspPro
XR_002957324.1:n.987_988insGCCAGCAATGGCTCGGTGACGTCGACC
NM_004984.4:c.754_755insGCCAGCAATGGCTCGGTGACGTCGACC MANE Select NP_004975.2:p.Ala252delinsGlyGlnGlnTrpLeuGlyAspValAspPro
NM_001354705.2:c.487_488insGCCAGCAATGGCTCGGTGACGTCGACC NP_001341634.1:p.Ala163delinsGlyGlnGlnTrpLeuGlyAspValAspPro