Canonical Allele Identifier: CA744795853

Gene: KCNS1

Linked Data

• dbSNP Id: rs1394070367
• gnomAD v3: 20-45093235-ACT-A
• gnomAD v4: 20-45093235-ACT-A
• MyVariant Identifiers: chr20:g.43721877_43721878del (hg19) ; chr20:g.45093236_45093237del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45093238_45093239del , CM000682.2:g.45093238_45093239del	GRCh38
NC_000020.10:g.43721879_43721880del , CM000682.1:g.43721879_43721880del	GRCh37
NC_000020.9:g.43155293_43155294del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537075.3:c.*1633_*1634del MANE Select	ENSP00000445595.1:n.*1633_*1634del
ENST00000306117.5:c.*1633_*1634del	ENSP00000307694.1:n.*1633_*1634del
NM_002251.3:c.*1633_*1634del	NP_002242.2:n.*1633_*1634del
XM_005260409.3:c.*1633_*1634del	XP_005260466.1:n.*1633_*1634del
NM_001322799.1:c.*1633_*1634del	NP_001309728.1:n.*1633_*1634del
NM_002251.4:c.*1633_*1634del	NP_002242.2:n.*1633_*1634del
XM_017027846.1:c.*1633_*1634del	XP_016883335.1:n.*1633_*1634del
NM_001322799.2:c.*1633_*1634del MANE Select	NP_001309728.1:n.*1633_*1634del
NM_002251.5:c.*1633_*1634del	NP_002242.2:n.*1633_*1634del