Canonical Allele Identifier: CA2619480186

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57582071-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57582072_57582073del , CM000674.2:g.57582072_57582073del	GRCh38
NC_000012.11:g.57975855_57975856del , CM000674.1:g.57975855_57975856del	GRCh37
NC_000012.10:g.56262122_56262123del	NCBI36
NG_008155.1:g.37009_37010del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2992+120_2992+121del MANE Select	ENSP00000408979.2:n.2992+120_2992+121del
ENST00000674619.1:c.3013+120_3013+121del	ENSP00000502270.1:n.3013+120_3013+121del
ENST00000675697.1:c.83+120_83+121del
ENST00000675737.1:n.516_517del
ENST00000675882.1:n.2515+120_2515+121del
ENST00000675929.1:n.1550+120_1550+121del
ENST00000676055.1:c.83+120_83+121del
ENST00000676437.1:c.17+120_17+121del
ENST00000676457.1:c.2887+120_2887+121del	ENSP00000501588.1:n.2887+120_2887+121del
ENST00000286452.5:c.2725+120_2725+121del	ENSP00000286452.5:n.2725+120_2725+121del
ENST00000455537.6:c.2992+120_2992+121del	ENSP00000408979.2:n.2992+120_2992+121del
ENST00000552227.1:n.275+120_275+121del
NM_004984.2:c.2992+120_2992+121del	NP_004975.2:n.2992+120_2992+121del
NM_001354705.1:c.2725+120_2725+121del	NP_001341634.1:n.2725+120_2725+121del
NM_004984.3:c.2992+120_2992+121del	NP_004975.2:n.2992+120_2992+121del
XR_002957324.1:n.3225+120_3225+121del
NM_004984.4:c.2992+120_2992+121del MANE Select	NP_004975.2:n.2992+120_2992+121del
NM_001354705.2:c.2725+120_2725+121del	NP_001341634.1:n.2725+120_2725+121del