Canonical Allele Identifier: CA948096697

Gene: KIF5A

Linked Data

• gnomAD v3: 12-57582128-T-TTAAAAA
• gnomAD v4: 12-57582128-T-TTAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57582128_57582129insTAAAAA , CM000674.2:g.57582128_57582129insTAAAAA	GRCh38
NC_000012.11:g.57975911_57975912insTAAAAA , CM000674.1:g.57975911_57975912insTAAAAA	GRCh37
NC_000012.10:g.56262178_56262179insTAAAAA	NCBI36
NG_008155.1:g.37065_37066insTAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2992+176_2992+177insTAAAAA MANE Select	ENSP00000408979.2:n.2992+176_2992+177insTAAAAA
ENST00000674619.1:c.3013+176_3013+177insTAAAAA	ENSP00000502270.1:n.3013+176_3013+177insTAAAAA
ENST00000675697.1:c.83+176_83+177insTAAAAA
ENST00000675737.1:n.572_573insTAAAAA
ENST00000675882.1:n.2515+176_2515+177insTAAAAA
ENST00000675929.1:n.1550+176_1550+177insTAAAAA
ENST00000676055.1:c.83+176_83+177insTAAAAA
ENST00000676437.1:c.17+176_17+177insTAAAAA
ENST00000676457.1:c.2887+176_2887+177insTAAAAA	ENSP00000501588.1:n.2887+176_2887+177insTAAAAA
ENST00000286452.5:c.2725+176_2725+177insTAAAAA	ENSP00000286452.5:n.2725+176_2725+177insTAAAAA
ENST00000455537.6:c.2992+176_2992+177insTAAAAA	ENSP00000408979.2:n.2992+176_2992+177insTAAAAA
ENST00000552227.1:n.275+176_275+177insTAAAAA
NM_004984.2:c.2992+176_2992+177insTAAAAA	NP_004975.2:n.2992+176_2992+177insTAAAAA
NM_001354705.1:c.2725+176_2725+177insTAAAAA	NP_001341634.1:n.2725+176_2725+177insTAAAAA
NM_004984.3:c.2992+176_2992+177insTAAAAA	NP_004975.2:n.2992+176_2992+177insTAAAAA
XR_002957324.1:n.3225+176_3225+177insTAAAAA
NM_004984.4:c.2992+176_2992+177insTAAAAA MANE Select	NP_004975.2:n.2992+176_2992+177insTAAAAA
NM_001354705.2:c.2725+176_2725+177insTAAAAA	NP_001341634.1:n.2725+176_2725+177insTAAAAA