Canonical Allele Identifier: CA2366061495

Gene: KCNS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45092833_45092855delinsGTCACTTGCTCAGGAAAGCCTTC , CM000682.2:g.45092833_45092855delinsGTCACTTGCTCAGGAAAGCCTTC	GRCh38
NC_000020.10:g.43721474_43721496delinsGTCACTTGCTCAGGAAAGCCTTC , CM000682.1:g.43721474_43721496delinsGTCACTTGCTCAGGAAAGCCTTC	GRCh37
NC_000020.9:g.43154888_43154910delinsGTCACTTGCTCAGGAAAGCCTTC	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000537075.3:c.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC MANE Select	ENSP00000445595.1:n.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC
ENST00000306117.5:c.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC	ENSP00000307694.1:n.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC
NM_002251.3:c.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC	NP_002242.2:n.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC
XM_005260409.3:c.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC	XP_005260466.1:n.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC
NM_001322799.1:c.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC	NP_001309728.1:n.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC
NM_002251.4:c.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC	NP_002242.2:n.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC
XM_017027846.1:c.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC	XP_016883335.1:n.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC
NM_001322799.2:c.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC MANE Select	NP_001309728.1:n.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC
NM_002251.5:c.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC	NP_002242.2:n.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC