Canonical Allele Identifier: CA2013431301
Gene: KCNA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045613_5045615delinsTCA , CM000674.2:g.5045613_5045615delinsTCA GRCh38
NC_000012.11:g.5154779_5154781delinsTCA , CM000674.1:g.5154779_5154781delinsTCA GRCh37
NC_000012.10:g.5025040_5025042delinsTCA NCBI36
NG_012198.1:g.6695_6697delinsTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1466_1468delinsTCA MANE Select ENSP00000252321.3:p.Ile489=
ENST00000252321.4:c.1466_1468delinsTCA ENSP00000252321.3:p.Ile489=
NM_002234.3:c.1466_1468delinsTCA NP_002225.2:p.Ile489=
NM_002234.4:c.1466_1468delinsTCA MANE Select NP_002225.2:p.Ile489=