Canonical Allele Identifier: CA2619480114
Gene: KIF5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57582043_57582044del , CM000674.2:g.57582043_57582044del GRCh38
NC_000012.11:g.57975826_57975827del , CM000674.1:g.57975826_57975827del GRCh37
NC_000012.10:g.56262093_56262094del NCBI36
NG_008155.1:g.36980_36981del

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.2992+91_2992+92del MANE Select ENSP00000408979.2:n.2992+91_2992+92del
ENST00000674619.1:c.3013+91_3013+92del ENSP00000502270.1:n.3013+91_3013+92del
ENST00000675697.1:c.83+91_83+92del
ENST00000675737.1:n.487_488del
ENST00000675882.1:n.2515+91_2515+92del
ENST00000675929.1:n.1550+91_1550+92del
ENST00000676055.1:c.83+91_83+92del
ENST00000676437.1:c.17+91_17+92del
ENST00000676457.1:c.2887+91_2887+92del ENSP00000501588.1:n.2887+91_2887+92del
ENST00000286452.5:c.2725+91_2725+92del ENSP00000286452.5:n.2725+91_2725+92del
ENST00000455537.6:c.2992+91_2992+92del ENSP00000408979.2:n.2992+91_2992+92del
ENST00000552227.1:n.275+91_275+92del
NM_004984.2:c.2992+91_2992+92del NP_004975.2:n.2992+91_2992+92del
NM_001354705.1:c.2725+91_2725+92del NP_001341634.1:n.2725+91_2725+92del
NM_004984.3:c.2992+91_2992+92del NP_004975.2:n.2992+91_2992+92del
XR_002957324.1:n.3225+91_3225+92del
NM_004984.4:c.2992+91_2992+92del MANE Select NP_004975.2:n.2992+91_2992+92del
NM_001354705.2:c.2725+91_2725+92del NP_001341634.1:n.2725+91_2725+92del