Canonical Allele Identifier: CA2653024301
Gene: KCNS1 HGNC NCBI

Linked Data

gnomAD v4: 20-45093195-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45093198del , CM000682.2:g.45093198del GRCh38
NC_000020.10:g.43721839del , CM000682.1:g.43721839del GRCh37
NC_000020.9:g.43155253del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000537075.3:c.*1674del MANE Select ENSP00000445595.1:n.*1674del
ENST00000306117.5:c.*1674del ENSP00000307694.1:n.*1674del
NM_002251.3:c.*1674del NP_002242.2:n.*1674del
XM_005260409.3:c.*1674del XP_005260466.1:n.*1674del
NM_001322799.1:c.*1674del NP_001309728.1:n.*1674del
NM_002251.4:c.*1674del NP_002242.2:n.*1674del
XM_017027846.1:c.*1674del XP_016883335.1:n.*1674del
NM_001322799.2:c.*1674del MANE Select NP_001309728.1:n.*1674del
NM_002251.5:c.*1674del NP_002242.2:n.*1674del
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