Canonical Allele Identifier: CA315503496
Gene: KCNS1 HGNC NCBI

Linked Data

dbSNP Id: rs146195915
gnomAD v2: 20-43721619-A-AT
gnomAD v3: 20-45092978-A-AT
gnomAD v4: 20-45092978-A-AT
MyVariant Identifiers: chr20:g.43721619_43721620insT (hg19) chr20:g.45092978_45092979insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45092979dup , CM000682.2:g.45092979dup GRCh38
NC_000020.10:g.43721620dup , CM000682.1:g.43721620dup GRCh37
NC_000020.9:g.43155034dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000537075.3:c.*1891dup MANE Select ENSP00000445595.1:n.*1891dup
ENST00000306117.5:c.*1891dup ENSP00000307694.1:n.*1891dup
NM_002251.3:c.*1891dup NP_002242.2:n.*1891dup
XM_005260409.3:c.*1891dup XP_005260466.1:n.*1891dup
NM_001322799.1:c.*1891dup NP_001309728.1:n.*1891dup
NM_002251.4:c.*1891dup NP_002242.2:n.*1891dup
XM_017027846.1:c.*1891dup XP_016883335.1:n.*1891dup
NM_001322799.2:c.*1891dup MANE Select NP_001309728.1:n.*1891dup
NM_002251.5:c.*1891dup NP_002242.2:n.*1891dup
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