Canonical Allele Identifier: CA948096703

Gene: KIF5A

Linked Data

• gnomAD v3: 12-57582129-AGCTACTTG-A
• gnomAD v4: 12-57582129-AGCTACTTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57582131_57582138del , CM000674.2:g.57582131_57582138del	GRCh38
NC_000012.11:g.57975914_57975921del , CM000674.1:g.57975914_57975921del	GRCh37
NC_000012.10:g.56262181_56262188del	NCBI36
NG_008155.1:g.37068_37075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2992+179_2992+186del MANE Select	ENSP00000408979.2:n.2992+179_2992+186del
ENST00000674619.1:c.3013+179_3013+186del	ENSP00000502270.1:n.3013+179_3013+186del
ENST00000675697.1:c.83+179_83+186del
ENST00000675737.1:n.575_582del
ENST00000675882.1:n.2515+179_2515+186del
ENST00000675929.1:n.1550+179_1550+186del
ENST00000676055.1:c.83+179_83+186del
ENST00000676437.1:c.17+179_17+186del
ENST00000676457.1:c.2887+179_2887+186del	ENSP00000501588.1:n.2887+179_2887+186del
ENST00000286452.5:c.2725+179_2725+186del	ENSP00000286452.5:n.2725+179_2725+186del
ENST00000455537.6:c.2992+179_2992+186del	ENSP00000408979.2:n.2992+179_2992+186del
ENST00000552227.1:n.275+179_275+186del
NM_004984.2:c.2992+179_2992+186del	NP_004975.2:n.2992+179_2992+186del
NM_001354705.1:c.2725+179_2725+186del	NP_001341634.1:n.2725+179_2725+186del
NM_004984.3:c.2992+179_2992+186del	NP_004975.2:n.2992+179_2992+186del
XR_002957324.1:n.3225+179_3225+186del
NM_004984.4:c.2992+179_2992+186del MANE Select	NP_004975.2:n.2992+179_2992+186del
NM_001354705.2:c.2725+179_2725+186del	NP_001341634.1:n.2725+179_2725+186del