Canonical Allele Identifier: CA2366061507

Gene: KCNS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45092861_45092874delinsTTCTCGGGCCATGG , CM000682.2:g.45092861_45092874delinsTTCTCGGGCCATGG	GRCh38
NC_000020.10:g.43721502_43721515delinsTTCTCGGGCCATGG , CM000682.1:g.43721502_43721515delinsTTCTCGGGCCATGG	GRCh37
NC_000020.9:g.43154916_43154929delinsTTCTCGGGCCATGG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000537075.3:c.*1996_*2009delinsCCATGGCCCGAGAA MANE Select	ENSP00000445595.1:n.*1996_*2009delinsCCATGGCCCGAGAA
ENST00000306117.5:c.*1996_*2009delinsCCATGGCCCGAGAA	ENSP00000307694.1:n.*1996_*2009delinsCCATGGCCCGAGAA
NM_002251.3:c.*1996_*2009delinsCCATGGCCCGAGAA	NP_002242.2:n.*1996_*2009delinsCCATGGCCCGAGAA
XM_005260409.3:c.*1996_*2009delinsCCATGGCCCGAGAA	XP_005260466.1:n.*1996_*2009delinsCCATGGCCCGAGAA
NM_001322799.1:c.*1996_*2009delinsCCATGGCCCGAGAA	NP_001309728.1:n.*1996_*2009delinsCCATGGCCCGAGAA
NM_002251.4:c.*1996_*2009delinsCCATGGCCCGAGAA	NP_002242.2:n.*1996_*2009delinsCCATGGCCCGAGAA
XM_017027846.1:c.*1996_*2009delinsCCATGGCCCGAGAA	XP_016883335.1:n.*1996_*2009delinsCCATGGCCCGAGAA
NM_001322799.2:c.*1996_*2009delinsCCATGGCCCGAGAA MANE Select	NP_001309728.1:n.*1996_*2009delinsCCATGGCCCGAGAA
NM_002251.5:c.*1996_*2009delinsCCATGGCCCGAGAA	NP_002242.2:n.*1996_*2009delinsCCATGGCCCGAGAA