Canonical Allele Identifier: CA744795688

Gene: KCNS1

Linked Data

• dbSNP Id: rs1447900101
• gnomAD v3: 20-45092861-TTCTCGGGCCATGG-T
• gnomAD v4: 20-45092861-TTCTCGGGCCATGG-T
• MyVariant Identifiers: chr20:g.43721503_43721515del (hg19) ; chr20:g.45092862_45092874del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45092864_45092876del , CM000682.2:g.45092864_45092876del	GRCh38
NC_000020.10:g.43721505_43721517del , CM000682.1:g.43721505_43721517del	GRCh37
NC_000020.9:g.43154919_43154931del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000537075.3:c.*1996_*2008del MANE Select	ENSP00000445595.1:n.*1996_*2008del
ENST00000306117.5:c.*1996_*2008del	ENSP00000307694.1:n.*1996_*2008del
NM_002251.3:c.*1996_*2008del	NP_002242.2:n.*1996_*2008del
XM_005260409.3:c.*1996_*2008del	XP_005260466.1:n.*1996_*2008del
NM_001322799.1:c.*1996_*2008del	NP_001309728.1:n.*1996_*2008del
NM_002251.4:c.*1996_*2008del	NP_002242.2:n.*1996_*2008del
XM_017027846.1:c.*1996_*2008del	XP_016883335.1:n.*1996_*2008del
NM_001322799.2:c.*1996_*2008del MANE Select	NP_001309728.1:n.*1996_*2008del
NM_002251.5:c.*1996_*2008del	NP_002242.2:n.*1996_*2008del