Canonical Allele Identifier: CA2038922438
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57567877_57567912delinsGTCCTTGGCTCTTTTTTTTTTTTTGAGACGGATTCT , CM000674.2:g.57567877_57567912delinsGTCCTTGGCTCTTTTTTTTTTTTTGAGACGGATTCT GRCh38
NC_000012.11:g.57961660_57961695delinsGTCCTTGGCTCTTTTTTTTTTTTTGAGACGGATTCT , CM000674.1:g.57961660_57961695delinsGTCCTTGGCTCTTTTTTTTTTTTTGAGACGGATTCT GRCh37
NC_000012.10:g.56247927_56247962delinsGTCCTTGGCTCTTTTTTTTTTTTTGAGACGGATTCT NCBI36
NG_008155.1:g.22814_22849delinsGTCCTTGGCTCTTTTTTTTTTTTTGAGACGGATTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.714+259_714+294delinsGTCCTTGGCTCTTTTTTTTTTTTTGAGACGGATTCT MANE Select ENSP00000408979.2:n.714+259_714+294delinsGTCCTTGGCTCTTTTTTTTT...
ENST00000674619.1:c.714+259_714+294delinsGTCCTTGGCTCTTTTTTTTTTTTTGAGACGGATTCT ENSP00000502270.1:n.714+259_714+294delinsGTCCTTGGCTCTTTTTTTTT...
ENST00000676457.1:c.609+259_609+294delinsGTCCTTGGCTCTTTTTTTTTTTTTGAGACGGATTCT ENSP00000501588.1:n.609+259_609+294delinsGTCCTTGGCTCTTTTTTTTT...
ENST00000286452.5:c.447+259_447+294delinsGTCCTTGGCTCTTTTTTTTTTTTTGAGACGGATTCT ENSP00000286452.5:n.447+259_447+294delinsGTCCTTGGCTCTTTTTTTTT...
ENST00000455537.6:c.714+259_714+294delinsGTCCTTGGCTCTTTTTTTTTTTTTGAGACGGATTCT ENSP00000408979.2:n.714+259_714+294delinsGTCCTTGGCTCTTTTTTTTT...
NM_004984.2:c.714+259_714+294delinsGTCCTTGGCTCTTTTTTTTTTTTTGAGACGGATTCT NP_004975.2:n.714+259_714+294delinsGTCCTTGGCTCTTTTTTTTTTTTTGA...
NM_001354705.1:c.447+259_447+294delinsGTCCTTGGCTCTTTTTTTTTTTTTGAGACGGATTCT NP_001341634.1:n.447+259_447+294delinsGTCCTTGGCTCTTTTTTTTTTTT...
NM_004984.3:c.714+259_714+294delinsGTCCTTGGCTCTTTTTTTTTTTTTGAGACGGATTCT NP_004975.2:n.714+259_714+294delinsGTCCTTGGCTCTTTTTTTTTTTTTGA...
XR_002957324.1:n.947+259_947+294delinsGTCCTTGGCTCTTTTTTTTTTTTTGAGACGGATTCT
NM_004984.4:c.714+259_714+294delinsGTCCTTGGCTCTTTTTTTTTTTTTGAGACGGATTCT MANE Select NP_004975.2:n.714+259_714+294delinsGTCCTTGGCTCTTTTTTTTTTTTTGA...
NM_001354705.2:c.447+259_447+294delinsGTCCTTGGCTCTTTTTTTTTTTTTGAGACGGATTCT NP_001341634.1:n.447+259_447+294delinsGTCCTTGGCTCTTTTTTTTTTTT...