Canonical Allele Identifier: CA2617209911
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5045125-CGTG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045127_5045129del , CM000674.2:g.5045127_5045129del GRCh38
NC_000012.11:g.5154293_5154295del , CM000674.1:g.5154293_5154295del GRCh37
NC_000012.10:g.5024554_5024556del NCBI36
NG_012198.1:g.6209_6211del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.980_982del MANE Select ENSP00000252321.3:p.Val327del
ENST00000252321.4:c.980_982del ENSP00000252321.3:p.Val327del
NM_002234.3:c.980_982del NP_002225.2:p.Val327del
NM_002234.4:c.980_982del MANE Select NP_002225.2:p.Val327del
Search 100 bp 5'
Search 100 bp 3'