Canonical Allele Identifier: CA2366061474
Gene: KCNS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45092773_45092774delinsTC , CM000682.2:g.45092773_45092774delinsTC GRCh38
NC_000020.10:g.43721414_43721415delinsTC , CM000682.1:g.43721414_43721415delinsTC GRCh37
NC_000020.9:g.43154828_43154829delinsTC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000537075.3:c.*2096_*2097delinsGA MANE Select ENSP00000445595.1:n.*2096_*2097delinsGA
ENST00000306117.5:c.*2096_*2097delinsGA ENSP00000307694.1:n.*2096_*2097delinsGA
NM_002251.3:c.*2096_*2097delinsGA NP_002242.2:n.*2096_*2097delinsGA
XM_005260409.3:c.*2096_*2097delinsGA XP_005260466.1:n.*2096_*2097delinsGA
NM_001322799.1:c.*2096_*2097delinsGA NP_001309728.1:n.*2096_*2097delinsGA
NM_002251.4:c.*2096_*2097delinsGA NP_002242.2:n.*2096_*2097delinsGA
XM_017027846.1:c.*2096_*2097delinsGA XP_016883335.1:n.*2096_*2097delinsGA
NM_001322799.2:c.*2096_*2097delinsGA MANE Select NP_001309728.1:n.*2096_*2097delinsGA
NM_002251.5:c.*2096_*2097delinsGA NP_002242.2:n.*2096_*2097delinsGA
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