Canonical Allele Identifier: CA2038922506
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57567900_57567908delinsTGAGACGGA , CM000674.2:g.57567900_57567908delinsTGAGACGGA GRCh38
NC_000012.11:g.57961683_57961691delinsTGAGACGGA , CM000674.1:g.57961683_57961691delinsTGAGACGGA GRCh37
NC_000012.10:g.56247950_56247958delinsTGAGACGGA NCBI36
NG_008155.1:g.22837_22845delinsTGAGACGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.714+282_714+290delinsTGAGACGGA MANE Select ENSP00000408979.2:n.714+282_714+290delinsTGAGACGGA
ENST00000674619.1:c.714+282_714+290delinsTGAGACGGA ENSP00000502270.1:n.714+282_714+290delinsTGAGACGGA
ENST00000676457.1:c.609+282_609+290delinsTGAGACGGA ENSP00000501588.1:n.609+282_609+290delinsTGAGACGGA
ENST00000286452.5:c.447+282_447+290delinsTGAGACGGA ENSP00000286452.5:n.447+282_447+290delinsTGAGACGGA
ENST00000455537.6:c.714+282_714+290delinsTGAGACGGA ENSP00000408979.2:n.714+282_714+290delinsTGAGACGGA
NM_004984.2:c.714+282_714+290delinsTGAGACGGA NP_004975.2:n.714+282_714+290delinsTGAGACGGA
NM_001354705.1:c.447+282_447+290delinsTGAGACGGA NP_001341634.1:n.447+282_447+290delinsTGAGACGGA
NM_004984.3:c.714+282_714+290delinsTGAGACGGA NP_004975.2:n.714+282_714+290delinsTGAGACGGA
XR_002957324.1:n.947+282_947+290delinsTGAGACGGA
NM_004984.4:c.714+282_714+290delinsTGAGACGGA MANE Select NP_004975.2:n.714+282_714+290delinsTGAGACGGA
NM_001354705.2:c.447+282_447+290delinsTGAGACGGA NP_001341634.1:n.447+282_447+290delinsTGAGACGGA