Canonical Allele Identifier: CA237782461

Gene: KIF5A

Linked Data

• dbSNP Id: rs928528375
• gnomAD v2: 12-57961660-GTCCTTGGCTCTTTTTTTTTTTTTGAGACGGATTCT-G
• gnomAD v3: 12-57567877-GTCCTTGGCTCTTTTTTTTTTTTTGAGACGGATTCT-G
• gnomAD v4: 12-57567877-GTCCTTGGCTCTTTTTTTTTTTTTGAGACGGATTCT-G
• MyVariant Identifiers: chr12:g.57961661_57961695del (hg19) ; chr12:g.57567878_57567912del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57567879_57567913del , CM000674.2:g.57567879_57567913del	GRCh38
NC_000012.11:g.57961662_57961696del , CM000674.1:g.57961662_57961696del	GRCh37
NC_000012.10:g.56247929_56247963del	NCBI36
NG_008155.1:g.22816_22850del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.714+261_714+295del MANE Select	ENSP00000408979.2:n.714+261_714+295del
ENST00000674619.1:c.714+261_714+295del	ENSP00000502270.1:n.714+261_714+295del
ENST00000676457.1:c.609+261_609+295del	ENSP00000501588.1:n.609+261_609+295del
ENST00000286452.5:c.447+261_447+295del	ENSP00000286452.5:n.447+261_447+295del
ENST00000455537.6:c.714+261_714+295del	ENSP00000408979.2:n.714+261_714+295del
NM_004984.2:c.714+261_714+295del	NP_004975.2:n.714+261_714+295del
NM_001354705.1:c.447+261_447+295del	NP_001341634.1:n.447+261_447+295del
NM_004984.3:c.714+261_714+295del	NP_004975.2:n.714+261_714+295del
XR_002957324.1:n.947+261_947+295del
NM_004984.4:c.714+261_714+295del MANE Select	NP_004975.2:n.714+261_714+295del
NM_001354705.2:c.447+261_447+295del	NP_001341634.1:n.447+261_447+295del