Canonical Allele Identifier: CA2575052198
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5045379-TCAAGCTCTCC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045381_5045390del , CM000674.2:g.5045381_5045390del GRCh38
NC_000012.11:g.5154547_5154556del , CM000674.1:g.5154547_5154556del GRCh37
NC_000012.10:g.5024808_5024817del NCBI36
NG_012198.1:g.6463_6472del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1234_1243del MANE Select ENSP00000252321.3:p.Lys412AlafsTer17
ENST00000252321.4:c.1234_1243del ENSP00000252321.3:p.Lys412AlafsTer17
NM_002234.3:c.1234_1243del NP_002225.2:p.Lys412AlafsTer17
NM_002234.4:c.1234_1243del MANE Select NP_002225.2:p.Lys412AlafsTer17
Search 100 bp 5'
Search 100 bp 3'