Canonical Allele Identifier: CA2619480221

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57582078-TAAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57582086_57582089del , CM000674.2:g.57582086_57582089del	GRCh38
NC_000012.11:g.57975869_57975872del , CM000674.1:g.57975869_57975872del	GRCh37
NC_000012.10:g.56262136_56262139del	NCBI36
NG_008155.1:g.37023_37026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2992+134_2992+137del MANE Select	ENSP00000408979.2:n.2992+134_2992+137del
ENST00000674619.1:c.3013+134_3013+137del	ENSP00000502270.1:n.3013+134_3013+137del
ENST00000675697.1:c.83+134_83+137del
ENST00000675737.1:n.530_533del
ENST00000675882.1:n.2515+134_2515+137del
ENST00000675929.1:n.1550+134_1550+137del
ENST00000676055.1:c.83+134_83+137del
ENST00000676437.1:c.17+134_17+137del
ENST00000676457.1:c.2887+134_2887+137del	ENSP00000501588.1:n.2887+134_2887+137del
ENST00000286452.5:c.2725+134_2725+137del	ENSP00000286452.5:n.2725+134_2725+137del
ENST00000455537.6:c.2992+134_2992+137del	ENSP00000408979.2:n.2992+134_2992+137del
ENST00000552227.1:n.275+134_275+137del
NM_004984.2:c.2992+134_2992+137del	NP_004975.2:n.2992+134_2992+137del
NM_001354705.1:c.2725+134_2725+137del	NP_001341634.1:n.2725+134_2725+137del
NM_004984.3:c.2992+134_2992+137del	NP_004975.2:n.2992+134_2992+137del
XR_002957324.1:n.3225+134_3225+137del
NM_004984.4:c.2992+134_2992+137del MANE Select	NP_004975.2:n.2992+134_2992+137del
NM_001354705.2:c.2725+134_2725+137del	NP_001341634.1:n.2725+134_2725+137del