Canonical Allele Identifier: CA744795661
Gene: KCNS1 HGNC NCBI

Linked Data

dbSNP Id: rs1481491676
gnomAD v3: 20-45092773-TC-T
gnomAD v4: 20-45092773-TC-T
MyVariant Identifiers: chr20:g.43721415del (hg19) chr20:g.45092774del (hg38)
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Genomic Alleles

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

Transcript Alleles

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