Canonical Allele Identifier: CA2619471210

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57567760-A-AGGCAGGAGAATCACTTAAACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57567760_57567761insGGCAGGAGAATCACTTAAACCC , CM000674.2:g.57567760_57567761insGGCAGGAGAATCACTTAAACCC	GRCh38
NC_000012.11:g.57961543_57961544insGGCAGGAGAATCACTTAAACCC , CM000674.1:g.57961543_57961544insGGCAGGAGAATCACTTAAACCC	GRCh37
NC_000012.10:g.56247810_56247811insGGCAGGAGAATCACTTAAACCC	NCBI36
NG_008155.1:g.22697_22698insGGCAGGAGAATCACTTAAACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.714+142_714+143insGGCAGGAGAATCACTTAAACCC MANE Select	ENSP00000408979.2:n.714+142_714+143insGGCAGGAGAATCACTTAAACCC
ENST00000674619.1:c.714+142_714+143insGGCAGGAGAATCACTTAAACCC	ENSP00000502270.1:n.714+142_714+143insGGCAGGAGAATCACTTAAACCC
ENST00000676457.1:c.609+142_609+143insGGCAGGAGAATCACTTAAACCC	ENSP00000501588.1:n.609+142_609+143insGGCAGGAGAATCACTTAAACCC
ENST00000286452.5:c.447+142_447+143insGGCAGGAGAATCACTTAAACCC	ENSP00000286452.5:n.447+142_447+143insGGCAGGAGAATCACTTAAACCC
ENST00000455537.6:c.714+142_714+143insGGCAGGAGAATCACTTAAACCC	ENSP00000408979.2:n.714+142_714+143insGGCAGGAGAATCACTTAAACCC
NM_004984.2:c.714+142_714+143insGGCAGGAGAATCACTTAAACCC	NP_004975.2:n.714+142_714+143insGGCAGGAGAATCACTTAAACCC
NM_001354705.1:c.447+142_447+143insGGCAGGAGAATCACTTAAACCC	NP_001341634.1:n.447+142_447+143insGGCAGGAGAATCACTTAAACCC
NM_004984.3:c.714+142_714+143insGGCAGGAGAATCACTTAAACCC	NP_004975.2:n.714+142_714+143insGGCAGGAGAATCACTTAAACCC
XR_002957324.1:n.947+142_947+143insGGCAGGAGAATCACTTAAACCC
NM_004984.4:c.714+142_714+143insGGCAGGAGAATCACTTAAACCC MANE Select	NP_004975.2:n.714+142_714+143insGGCAGGAGAATCACTTAAACCC
NM_001354705.2:c.447+142_447+143insGGCAGGAGAATCACTTAAACCC	NP_001341634.1:n.447+142_447+143insGGCAGGAGAATCACTTAAACCC