Canonical Allele Identifier: CA237791306

Gene: KIF5A

Linked Data

• dbSNP Id: rs973416506
• gnomAD v4: 12-57581807-AGTG-A
• MyVariant Identifiers: chr12:g.57975591_57975593del (hg19) ; chr12:g.57581808_57581810del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581810_57581812del , CM000674.2:g.57581810_57581812del	GRCh38
NC_000012.11:g.57975593_57975595del , CM000674.1:g.57975593_57975595del	GRCh37
NC_000012.10:g.56261860_56261862del	NCBI36
NG_008155.1:g.36747_36749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2910-60_2910-58del MANE Select	ENSP00000408979.2:n.2910-60_2910-58del
ENST00000674619.1:c.2931-60_2931-58del	ENSP00000502270.1:n.2931-60_2931-58del
ENST00000675737.1:n.314-60_314-58del
ENST00000675882.1:n.2373_2375del
ENST00000675929.1:n.1468-60_1468-58del
ENST00000676457.1:c.2805-60_2805-58del	ENSP00000501588.1:n.2805-60_2805-58del
ENST00000286452.5:c.2643-60_2643-58del	ENSP00000286452.5:n.2643-60_2643-58del
ENST00000455537.6:c.2910-60_2910-58del	ENSP00000408979.2:n.2910-60_2910-58del
ENST00000552227.1:n.133_135del
NM_004984.2:c.2910-60_2910-58del	NP_004975.2:n.2910-60_2910-58del
NM_001354705.1:c.2643-60_2643-58del	NP_001341634.1:n.2643-60_2643-58del
NM_004984.3:c.2910-60_2910-58del	NP_004975.2:n.2910-60_2910-58del
XR_002957324.1:n.3143-60_3143-58del
NM_004984.4:c.2910-60_2910-58del MANE Select	NP_004975.2:n.2910-60_2910-58del
NM_001354705.2:c.2643-60_2643-58del	NP_001341634.1:n.2643-60_2643-58del