Canonical Allele Identifier: CA605315722

Gene: KIF5A

Linked Data

• dbSNP Id: rs1013090932
• gnomAD v2: 12-57975861-T-TAA
• gnomAD v3: 12-57582078-T-TAA
• gnomAD v4: 12-57582078-T-TAA
• MyVariant Identifiers: chr12:g.57975862_57975863insAA (hg19) ; chr12:g.57582079_57582080insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57582088_57582089dup , CM000674.2:g.57582088_57582089dup	GRCh38
NC_000012.11:g.57975871_57975872dup , CM000674.1:g.57975871_57975872dup	GRCh37
NC_000012.10:g.56262138_56262139dup	NCBI36
NG_008155.1:g.37025_37026dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2992+136_2992+137dup MANE Select	ENSP00000408979.2:n.2992+136_2992+137dup
ENST00000674619.1:c.3013+136_3013+137dup	ENSP00000502270.1:n.3013+136_3013+137dup
ENST00000675697.1:c.83+136_83+137dup
ENST00000675737.1:n.532_533dup
ENST00000675882.1:n.2515+136_2515+137dup
ENST00000675929.1:n.1550+136_1550+137dup
ENST00000676055.1:c.83+136_83+137dup
ENST00000676437.1:c.17+136_17+137dup
ENST00000676457.1:c.2887+136_2887+137dup	ENSP00000501588.1:n.2887+136_2887+137dup
ENST00000286452.5:c.2725+136_2725+137dup	ENSP00000286452.5:n.2725+136_2725+137dup
ENST00000455537.6:c.2992+136_2992+137dup	ENSP00000408979.2:n.2992+136_2992+137dup
ENST00000552227.1:n.275+136_275+137dup
NM_004984.2:c.2992+136_2992+137dup	NP_004975.2:n.2992+136_2992+137dup
NM_001354705.1:c.2725+136_2725+137dup	NP_001341634.1:n.2725+136_2725+137dup
NM_004984.3:c.2992+136_2992+137dup	NP_004975.2:n.2992+136_2992+137dup
XR_002957324.1:n.3225+136_3225+137dup
NM_004984.4:c.2992+136_2992+137dup MANE Select	NP_004975.2:n.2992+136_2992+137dup
NM_001354705.2:c.2725+136_2725+137dup	NP_001341634.1:n.2725+136_2725+137dup