Canonical Allele Identifier: CA2013430999
Gene: KCNA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044995_5045013delinsGCCACCCTCCGGCGCCCCA , CM000674.2:g.5044995_5045013delinsGCCACCCTCCGGCGCCCCA GRCh38
NC_000012.11:g.5154161_5154179delinsGCCACCCTCCGGCGCCCCA , CM000674.1:g.5154161_5154179delinsGCCACCCTCCGGCGCCCCA GRCh37
NC_000012.10:g.5024422_5024440delinsGCCACCCTCCGGCGCCCCA NCBI36
NG_012198.1:g.6077_6095delinsGCCACCCTCCGGCGCCCCA

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.848_866delinsGCCACCCTCCGGCGCCCCA MANE Select ENSP00000252321.3:p.Arg283=
ENST00000252321.4:c.848_866delinsGCCACCCTCCGGCGCCCCA ENSP00000252321.3:p.Arg283=
NM_002234.3:c.848_866delinsGCCACCCTCCGGCGCCCCA NP_002225.2:p.Arg283=
NM_002234.4:c.848_866delinsGCCACCCTCCGGCGCCCCA MANE Select NP_002225.2:p.Arg283=