Canonical Allele Identifier: CA2366061619
Gene: KCNS1 HGNC NCBI

Linked Data

dbSNP Id: rs1981053687
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45093089_45093092del , CM000682.2:g.45093089_45093092del GRCh38
NC_000020.10:g.43721730_43721733del , CM000682.1:g.43721730_43721733del GRCh37
NC_000020.9:g.43155144_43155147del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000537075.3:c.*1781_*1784del MANE Select ENSP00000445595.1:n.*1781_*1784del
ENST00000306117.5:c.*1781_*1784del ENSP00000307694.1:n.*1781_*1784del
NM_002251.3:c.*1781_*1784del NP_002242.2:n.*1781_*1784del
XM_005260409.3:c.*1781_*1784del XP_005260466.1:n.*1781_*1784del
NM_001322799.1:c.*1781_*1784del NP_001309728.1:n.*1781_*1784del
NM_002251.4:c.*1781_*1784del NP_002242.2:n.*1781_*1784del
XM_017027846.1:c.*1781_*1784del XP_016883335.1:n.*1781_*1784del
NM_001322799.2:c.*1781_*1784del MANE Select NP_001309728.1:n.*1781_*1784del
NM_002251.5:c.*1781_*1784del NP_002242.2:n.*1781_*1784del
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