Canonical Allele Identifier: CA2366061687
Gene: KCNS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45093235_45093237delinsACT , CM000682.2:g.45093235_45093237delinsACT GRCh38
NC_000020.10:g.43721876_43721878delinsACT , CM000682.1:g.43721876_43721878delinsACT GRCh37
NC_000020.9:g.43155290_43155292delinsACT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000537075.3:c.*1633_*1635delinsAGT MANE Select ENSP00000445595.1:n.*1633_*1635delinsAGT
ENST00000306117.5:c.*1633_*1635delinsAGT ENSP00000307694.1:n.*1633_*1635delinsAGT
NM_002251.3:c.*1633_*1635delinsAGT NP_002242.2:n.*1633_*1635delinsAGT
XM_005260409.3:c.*1633_*1635delinsAGT XP_005260466.1:n.*1633_*1635delinsAGT
NM_001322799.1:c.*1633_*1635delinsAGT NP_001309728.1:n.*1633_*1635delinsAGT
NM_002251.4:c.*1633_*1635delinsAGT NP_002242.2:n.*1633_*1635delinsAGT
XM_017027846.1:c.*1633_*1635delinsAGT XP_016883335.1:n.*1633_*1635delinsAGT
NM_001322799.2:c.*1633_*1635delinsAGT MANE Select NP_001309728.1:n.*1633_*1635delinsAGT
NM_002251.5:c.*1633_*1635delinsAGT NP_002242.2:n.*1633_*1635delinsAGT
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