Canonical Allele Identifier: CA2366061682

Gene: KCNS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45093225_45093227delinsCCA , CM000682.2:g.45093225_45093227delinsCCA	GRCh38
NC_000020.10:g.43721866_43721868delinsCCA , CM000682.1:g.43721866_43721868delinsCCA	GRCh37
NC_000020.9:g.43155280_43155282delinsCCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537075.3:c.*1643_*1645delinsTGG MANE Select	ENSP00000445595.1:n.*1643_*1645delinsTGG
ENST00000306117.5:c.*1643_*1645delinsTGG	ENSP00000307694.1:n.*1643_*1645delinsTGG
NM_002251.3:c.*1643_*1645delinsTGG	NP_002242.2:n.*1643_*1645delinsTGG
XM_005260409.3:c.*1643_*1645delinsTGG	XP_005260466.1:n.*1643_*1645delinsTGG
NM_001322799.1:c.*1643_*1645delinsTGG	NP_001309728.1:n.*1643_*1645delinsTGG
NM_002251.4:c.*1643_*1645delinsTGG	NP_002242.2:n.*1643_*1645delinsTGG
XM_017027846.1:c.*1643_*1645delinsTGG	XP_016883335.1:n.*1643_*1645delinsTGG
NM_001322799.2:c.*1643_*1645delinsTGG MANE Select	NP_001309728.1:n.*1643_*1645delinsTGG
NM_002251.5:c.*1643_*1645delinsTGG	NP_002242.2:n.*1643_*1645delinsTGG