Canonical Allele Identifier: CA1017880716
Gene: KCNS1 HGNC NCBI

Linked Data

dbSNP Id: rs1981057253
gnomAD v3: 20-45093186-GACT-G
gnomAD v4: 20-45093186-GACT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45093188_45093190del , CM000682.2:g.45093188_45093190del GRCh38
NC_000020.10:g.43721829_43721831del , CM000682.1:g.43721829_43721831del GRCh37
NC_000020.9:g.43155243_43155245del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000537075.3:c.*1681_*1683del MANE Select ENSP00000445595.1:n.*1681_*1683del
ENST00000306117.5:c.*1681_*1683del ENSP00000307694.1:n.*1681_*1683del
NM_002251.3:c.*1681_*1683del NP_002242.2:n.*1681_*1683del
XM_005260409.3:c.*1681_*1683del XP_005260466.1:n.*1681_*1683del
NM_001322799.1:c.*1681_*1683del NP_001309728.1:n.*1681_*1683del
NM_002251.4:c.*1681_*1683del NP_002242.2:n.*1681_*1683del
XM_017027846.1:c.*1681_*1683del XP_016883335.1:n.*1681_*1683del
NM_001322799.2:c.*1681_*1683del MANE Select NP_001309728.1:n.*1681_*1683del
NM_002251.5:c.*1681_*1683del NP_002242.2:n.*1681_*1683del
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