Canonical Allele Identifier: CA6399556
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs71581015
ExAC: 12:5153491 GCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGC / G
gnomAD v2: 12-5153491-GCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGC-G
gnomAD v3: 12-5044325-GCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGC-G
gnomAD v4: 12-5044325-GCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGC-G
MyVariant Identifiers: chr12:g.5153492_5153524del (hg19) chr12:g.5044326_5044358del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044331_5044363del , CM000674.2:g.5044331_5044363del GRCh38
NC_000012.11:g.5153497_5153529del , CM000674.1:g.5153497_5153529del GRCh37
NC_000012.10:g.5023758_5023790del NCBI36
NG_012198.1:g.5413_5445del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.184_216del MANE Select ENSP00000252321.3:p.Ser62_Asp72del
ENST00000252321.4:c.184_216del ENSP00000252321.3:p.Ser62_Asp72del
NM_002234.3:c.184_216del NP_002225.2:p.Ser62_Asp72del
NM_002234.4:c.184_216del MANE Select NP_002225.2:p.Ser62_Asp72del
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