Canonical Allele Identifier: CA2013431293
Gene: KCNA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045594_5045595delinsTA , CM000674.2:g.5045594_5045595delinsTA GRCh38
NC_000012.11:g.5154760_5154761delinsTA , CM000674.1:g.5154760_5154761delinsTA GRCh37
NC_000012.10:g.5025021_5025022delinsTA NCBI36
NG_012198.1:g.6676_6677delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1447_1448delinsTA MANE Select ENSP00000252321.3:p.Tyr483=
ENST00000252321.4:c.1447_1448delinsTA ENSP00000252321.3:p.Tyr483=
NM_002234.3:c.1447_1448delinsTA NP_002225.2:p.Tyr483=
NM_002234.4:c.1447_1448delinsTA MANE Select NP_002225.2:p.Tyr483=