Canonical Allele Identifier: CA948104730

Gene: KIF5A

Linked Data

• gnomAD v3: 12-57567900-TGAGACGG-T
• gnomAD v4: 12-57567900-TGAGACGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57567901_57567907del , CM000674.2:g.57567901_57567907del	GRCh38
NC_000012.11:g.57961684_57961690del , CM000674.1:g.57961684_57961690del	GRCh37
NC_000012.10:g.56247951_56247957del	NCBI36
NG_008155.1:g.22838_22844del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.714+283_714+289del MANE Select	ENSP00000408979.2:n.714+283_714+289del
ENST00000674619.1:c.714+283_714+289del	ENSP00000502270.1:n.714+283_714+289del
ENST00000676457.1:c.609+283_609+289del	ENSP00000501588.1:n.609+283_609+289del
ENST00000286452.5:c.447+283_447+289del	ENSP00000286452.5:n.447+283_447+289del
ENST00000455537.6:c.714+283_714+289del	ENSP00000408979.2:n.714+283_714+289del
NM_004984.2:c.714+283_714+289del	NP_004975.2:n.714+283_714+289del
NM_001354705.1:c.447+283_447+289del	NP_001341634.1:n.447+283_447+289del
NM_004984.3:c.714+283_714+289del	NP_004975.2:n.714+283_714+289del
XR_002957324.1:n.947+283_947+289del
NM_004984.4:c.714+283_714+289del MANE Select	NP_004975.2:n.714+283_714+289del
NM_001354705.2:c.447+283_447+289del	NP_001341634.1:n.447+283_447+289del