Canonical Allele Identifier: CA948096662

Gene: KIF5A

Linked Data

• gnomAD v3: 12-57582106-T-TAGATCTC
• gnomAD v4: 12-57582106-T-TAGATCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57582106_57582107insAGATCTC , CM000674.2:g.57582106_57582107insAGATCTC	GRCh38
NC_000012.11:g.57975889_57975890insAGATCTC , CM000674.1:g.57975889_57975890insAGATCTC	GRCh37
NC_000012.10:g.56262156_56262157insAGATCTC	NCBI36
NG_008155.1:g.37043_37044insAGATCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2992+154_2992+155insAGATCTC MANE Select	ENSP00000408979.2:n.2992+154_2992+155insAGATCTC
ENST00000674619.1:c.3013+154_3013+155insAGATCTC	ENSP00000502270.1:n.3013+154_3013+155insAGATCTC
ENST00000675697.1:c.83+154_83+155insAGATCTC
ENST00000675737.1:n.550_551insAGATCTC
ENST00000675882.1:n.2515+154_2515+155insAGATCTC
ENST00000675929.1:n.1550+154_1550+155insAGATCTC
ENST00000676055.1:c.83+154_83+155insAGATCTC
ENST00000676437.1:c.17+154_17+155insAGATCTC
ENST00000676457.1:c.2887+154_2887+155insAGATCTC	ENSP00000501588.1:n.2887+154_2887+155insAGATCTC
ENST00000286452.5:c.2725+154_2725+155insAGATCTC	ENSP00000286452.5:n.2725+154_2725+155insAGATCTC
ENST00000455537.6:c.2992+154_2992+155insAGATCTC	ENSP00000408979.2:n.2992+154_2992+155insAGATCTC
ENST00000552227.1:n.275+154_275+155insAGATCTC
NM_004984.2:c.2992+154_2992+155insAGATCTC	NP_004975.2:n.2992+154_2992+155insAGATCTC
NM_001354705.1:c.2725+154_2725+155insAGATCTC	NP_001341634.1:n.2725+154_2725+155insAGATCTC
NM_004984.3:c.2992+154_2992+155insAGATCTC	NP_004975.2:n.2992+154_2992+155insAGATCTC
XR_002957324.1:n.3225+154_3225+155insAGATCTC
NM_004984.4:c.2992+154_2992+155insAGATCTC MANE Select	NP_004975.2:n.2992+154_2992+155insAGATCTC
NM_001354705.2:c.2725+154_2725+155insAGATCTC	NP_001341634.1:n.2725+154_2725+155insAGATCTC