Canonical Allele Identifier: CA2366061459

Gene: KCNS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45092741_45092756delinsTTCACACATGCCATTC , CM000682.2:g.45092741_45092756delinsTTCACACATGCCATTC	GRCh38
NC_000020.10:g.43721382_43721397delinsTTCACACATGCCATTC , CM000682.1:g.43721382_43721397delinsTTCACACATGCCATTC	GRCh37
NC_000020.9:g.43154796_43154811delinsTTCACACATGCCATTC	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000537075.3:c.*2114_*2129delinsGAATGGCATGTGTGAA MANE Select	ENSP00000445595.1:n.*2114_*2129delinsGAATGGCATGTGTGAA
ENST00000306117.5:c.*2114_*2129delinsGAATGGCATGTGTGAA	ENSP00000307694.1:n.*2114_*2129delinsGAATGGCATGTGTGAA
NM_002251.3:c.*2114_*2129delinsGAATGGCATGTGTGAA	NP_002242.2:n.*2114_*2129delinsGAATGGCATGTGTGAA
XM_005260409.3:c.*2114_*2129delinsGAATGGCATGTGTGAA	XP_005260466.1:n.*2114_*2129delinsGAATGGCATGTGTGAA
NM_001322799.1:c.*2114_*2129delinsGAATGGCATGTGTGAA	NP_001309728.1:n.*2114_*2129delinsGAATGGCATGTGTGAA
NM_002251.4:c.*2114_*2129delinsGAATGGCATGTGTGAA	NP_002242.2:n.*2114_*2129delinsGAATGGCATGTGTGAA
XM_017027846.1:c.*2114_*2129delinsGAATGGCATGTGTGAA	XP_016883335.1:n.*2114_*2129delinsGAATGGCATGTGTGAA
NM_001322799.2:c.*2114_*2129delinsGAATGGCATGTGTGAA MANE Select	NP_001309728.1:n.*2114_*2129delinsGAATGGCATGTGTGAA
NM_002251.5:c.*2114_*2129delinsGAATGGCATGTGTGAA	NP_002242.2:n.*2114_*2129delinsGAATGGCATGTGTGAA