Canonical Allele Identifier: CA605315469

Gene: KIF5A

Linked Data

• dbSNP Id: rs1882607896
• gnomAD v2: 12-57975491-A-AGGTCC
• MyVariant Identifiers: chr12:g.57975491_57975492insGGTCC (hg19) ; chr12:g.57581708_57581709insGGTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581711_57581712insCCGGT , CM000674.2:g.57581711_57581712insCCGGT	GRCh38
NC_000012.11:g.57975494_57975495insCCGGT , CM000674.1:g.57975494_57975495insCCGGT	GRCh37
NC_000012.10:g.56261761_56261762insCCGGT	NCBI36
NG_008155.1:g.36648_36649insCCGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2909+143_2909+144insCCGGT MANE Select	ENSP00000408979.2:n.2909+143_2909+144insCCGGT
ENST00000674619.1:c.2930+143_2930+144insCCGGT	ENSP00000502270.1:n.2930+143_2930+144insCCGGT
ENST00000675737.1:n.313+143_313+144insCCGGT
ENST00000675882.1:n.2274_2275insCCGGT
ENST00000675929.1:n.1467+143_1467+144insCCGGT
ENST00000676457.1:c.2804+143_2804+144insCCGGT	ENSP00000501588.1:n.2804+143_2804+144insCCGGT
ENST00000286452.5:c.2642+143_2642+144insCCGGT	ENSP00000286452.5:n.2642+143_2642+144insCCGGT
ENST00000455537.6:c.2909+143_2909+144insCCGGT	ENSP00000408979.2:n.2909+143_2909+144insCCGGT
ENST00000552227.1:n.34_35insCCGGT
NM_004984.2:c.2909+143_2909+144insCCGGT	NP_004975.2:n.2909+143_2909+144insCCGGT
NM_001354705.1:c.2642+143_2642+144insCCGGT	NP_001341634.1:n.2642+143_2642+144insCCGGT
NM_004984.3:c.2909+143_2909+144insCCGGT	NP_004975.2:n.2909+143_2909+144insCCGGT
XR_002957324.1:n.3142+143_3142+144insCCGGT
NM_004984.4:c.2909+143_2909+144insCCGGT MANE Select	NP_004975.2:n.2909+143_2909+144insCCGGT
NM_001354705.2:c.2642+143_2642+144insCCGGT	NP_001341634.1:n.2642+143_2642+144insCCGGT