Canonical Allele Identifier: CA2619480147

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57582058-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57582060del , CM000674.2:g.57582060del	GRCh38
NC_000012.11:g.57975843del , CM000674.1:g.57975843del	GRCh37
NC_000012.10:g.56262110del	NCBI36
NG_008155.1:g.36997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2992+108del MANE Select	ENSP00000408979.2:n.2992+108del
ENST00000674619.1:c.3013+108del	ENSP00000502270.1:n.3013+108del
ENST00000675697.1:c.83+108del
ENST00000675737.1:n.504del
ENST00000675882.1:n.2515+108del
ENST00000675929.1:n.1550+108del
ENST00000676055.1:c.83+108del
ENST00000676437.1:c.17+108del
ENST00000676457.1:c.2887+108del	ENSP00000501588.1:n.2887+108del
ENST00000286452.5:c.2725+108del	ENSP00000286452.5:n.2725+108del
ENST00000455537.6:c.2992+108del	ENSP00000408979.2:n.2992+108del
ENST00000552227.1:n.275+108del
NM_004984.2:c.2992+108del	NP_004975.2:n.2992+108del
NM_001354705.1:c.2725+108del	NP_001341634.1:n.2725+108del
NM_004984.3:c.2992+108del	NP_004975.2:n.2992+108del
XR_002957324.1:n.3225+108del
NM_004984.4:c.2992+108del MANE Select	NP_004975.2:n.2992+108del
NM_001354705.2:c.2725+108del	NP_001341634.1:n.2725+108del