Canonical Allele Identifier: CA2366061480
Gene: KCNS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45092779_45092780delinsCT , CM000682.2:g.45092779_45092780delinsCT GRCh38
NC_000020.10:g.43721420_43721421delinsCT , CM000682.1:g.43721420_43721421delinsCT GRCh37
NC_000020.9:g.43154834_43154835delinsCT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000537075.3:c.*2090_*2091delinsAG MANE Select ENSP00000445595.1:n.*2090_*2091delinsAG
ENST00000306117.5:c.*2090_*2091delinsAG ENSP00000307694.1:n.*2090_*2091delinsAG
NM_002251.3:c.*2090_*2091delinsAG NP_002242.2:n.*2090_*2091delinsAG
XM_005260409.3:c.*2090_*2091delinsAG XP_005260466.1:n.*2090_*2091delinsAG
NM_001322799.1:c.*2090_*2091delinsAG NP_001309728.1:n.*2090_*2091delinsAG
NM_002251.4:c.*2090_*2091delinsAG NP_002242.2:n.*2090_*2091delinsAG
XM_017027846.1:c.*2090_*2091delinsAG XP_016883335.1:n.*2090_*2091delinsAG
NM_001322799.2:c.*2090_*2091delinsAG MANE Select NP_001309728.1:n.*2090_*2091delinsAG
NM_002251.5:c.*2090_*2091delinsAG NP_002242.2:n.*2090_*2091delinsAG