Canonical Allele Identifier: CA2617209887
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044325-G-GCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044331_5044363dup , CM000674.2:g.5044331_5044363dup GRCh38
NC_000012.11:g.5153497_5153529dup , CM000674.1:g.5153497_5153529dup GRCh37
NC_000012.10:g.5023758_5023790dup NCBI36
NG_012198.1:g.5413_5445dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.184_216dup MANE Select ENSP00000252321.3:p.Asp72_Pro73insSerGlyValArgProLeuProProLeu...
ENST00000252321.4:c.184_216dup ENSP00000252321.3:p.Asp72_Pro73insSerGlyValArgProLeuProProLeu...
NM_002234.3:c.184_216dup NP_002225.2:p.Asp72_Pro73insSerGlyValArgProLeuProProLeuProAsp...
NM_002234.4:c.184_216dup MANE Select NP_002225.2:p.Asp72_Pro73insSerGlyValArgProLeuProProLeuProAsp...
Search 100 bp 5'
Search 100 bp 3'