Canonical Allele Identifier: CA2619480157

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57582068-AGGCTTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57582069_57582074del , CM000674.2:g.57582069_57582074del	GRCh38
NC_000012.11:g.57975852_57975857del , CM000674.1:g.57975852_57975857del	GRCh37
NC_000012.10:g.56262119_56262124del	NCBI36
NG_008155.1:g.37006_37011del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2992+117_2992+122del MANE Select	ENSP00000408979.2:n.2992+117_2992+122del
ENST00000674619.1:c.3013+117_3013+122del	ENSP00000502270.1:n.3013+117_3013+122del
ENST00000675697.1:c.83+117_83+122del
ENST00000675737.1:n.513_518del
ENST00000675882.1:n.2515+117_2515+122del
ENST00000675929.1:n.1550+117_1550+122del
ENST00000676055.1:c.83+117_83+122del
ENST00000676437.1:c.17+117_17+122del
ENST00000676457.1:c.2887+117_2887+122del	ENSP00000501588.1:n.2887+117_2887+122del
ENST00000286452.5:c.2725+117_2725+122del	ENSP00000286452.5:n.2725+117_2725+122del
ENST00000455537.6:c.2992+117_2992+122del	ENSP00000408979.2:n.2992+117_2992+122del
ENST00000552227.1:n.275+117_275+122del
NM_004984.2:c.2992+117_2992+122del	NP_004975.2:n.2992+117_2992+122del
NM_001354705.1:c.2725+117_2725+122del	NP_001341634.1:n.2725+117_2725+122del
NM_004984.3:c.2992+117_2992+122del	NP_004975.2:n.2992+117_2992+122del
XR_002957324.1:n.3225+117_3225+122del
NM_004984.4:c.2992+117_2992+122del MANE Select	NP_004975.2:n.2992+117_2992+122del
NM_001354705.2:c.2725+117_2725+122del	NP_001341634.1:n.2725+117_2725+122del