Canonical Allele Identifier: CA891843505

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 573625
• ClinVar RCV Id: RCV000695342
• dbSNP Id: rs1565705251
• MyVariant Identifiers: chr12:g.57975656_57975657insA (hg19) ; chr12:g.57581873_57581874insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581873_57581874insA , CM000674.2:g.57581873_57581874insA	GRCh38
NC_000012.11:g.57975656_57975657insA , CM000674.1:g.57975656_57975657insA	GRCh37
NC_000012.10:g.56261923_56261924insA	NCBI36
NG_008155.1:g.36810_36811insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2913_2914insA MANE Select	ENSP00000408979.2:p.Ala972SerfsTer?
ENST00000674619.1:c.2934_2935insA	ENSP00000502270.1:p.Ala979SerfsTer?
ENST00000675697.1:c.4_5insA
ENST00000675737.1:n.317_318insA
ENST00000675882.1:n.2436_2437insA
ENST00000675929.1:n.1471_1472insA
ENST00000676055.1:c.4_5insA
ENST00000676457.1:c.2808_2809insA	ENSP00000501588.1:p.Ala937SerfsTer?
ENST00000286452.5:c.2646_2647insA	ENSP00000286452.5:p.Ala883SerfsTer?
ENST00000455537.6:c.2913_2914insA	ENSP00000408979.2:p.Ala972SerfsTer?
ENST00000552227.1:n.196_197insA
NM_004984.2:c.2913_2914insA	NP_004975.2:p.Ala972SerfsTer?
NM_001354705.1:c.2646_2647insA	NP_001341634.1:p.Ala883SerfsTer?
NM_004984.3:c.2913_2914insA	NP_004975.2:p.Ala972SerfsTer?
XR_002957324.1:n.3146_3147insA
NM_004984.4:c.2913_2914insA MANE Select	NP_004975.2:p.Ala972SerfsTer?
NM_001354705.2:c.2646_2647insA	NP_001341634.1:p.Ala883SerfsTer?