Canonical Allele Identifier: CA2575052173
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044699-CCTGCGGAGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044701_5044709del , CM000674.2:g.5044701_5044709del GRCh38
NC_000012.11:g.5153867_5153875del , CM000674.1:g.5153867_5153875del GRCh37
NC_000012.10:g.5024128_5024136del NCBI36
NG_012198.1:g.5783_5791del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.554_562del MANE Select ENSP00000252321.3:p.Leu185_Arg187del
ENST00000252321.4:c.554_562del ENSP00000252321.3:p.Leu185_Arg187del
NM_002234.3:c.554_562del NP_002225.2:p.Leu185_Arg187del
NM_002234.4:c.554_562del MANE Select NP_002225.2:p.Leu185_Arg187del
Search 100 bp 5'
Search 100 bp 3'