Canonical Allele Identifier: CA2547494668
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57582047_57582050del , CM000674.2:g.57582047_57582050del GRCh38
NC_000012.11:g.57975830_57975833del , CM000674.1:g.57975830_57975833del GRCh37
NC_000012.10:g.56262097_56262100del NCBI36
NG_008155.1:g.36984_36987del

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.2992+95_2992+98del MANE Select ENSP00000408979.2:n.2992+95_2992+98del
ENST00000674619.1:c.3013+95_3013+98del ENSP00000502270.1:n.3013+95_3013+98del
ENST00000675697.1:c.83+95_83+98del
ENST00000675737.1:n.491_494del
ENST00000675882.1:n.2515+95_2515+98del
ENST00000675929.1:n.1550+95_1550+98del
ENST00000676055.1:c.83+95_83+98del
ENST00000676437.1:c.17+95_17+98del
ENST00000676457.1:c.2887+95_2887+98del ENSP00000501588.1:n.2887+95_2887+98del
ENST00000286452.5:c.2725+95_2725+98del ENSP00000286452.5:n.2725+95_2725+98del
ENST00000455537.6:c.2992+95_2992+98del ENSP00000408979.2:n.2992+95_2992+98del
ENST00000552227.1:n.275+95_275+98del
NM_004984.2:c.2992+95_2992+98del NP_004975.2:n.2992+95_2992+98del
NM_001354705.1:c.2725+95_2725+98del NP_001341634.1:n.2725+95_2725+98del
NM_004984.3:c.2992+95_2992+98del NP_004975.2:n.2992+95_2992+98del
XR_002957324.1:n.3225+95_3225+98del
NM_004984.4:c.2992+95_2992+98del MANE Select NP_004975.2:n.2992+95_2992+98del
NM_001354705.2:c.2725+95_2725+98del NP_001341634.1:n.2725+95_2725+98del