Canonical Allele Identifier: CA2366061698

Gene: KCNS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45093249_45093266delinsTATTTGTTGAGTGAGTGA , CM000682.2:g.45093249_45093266delinsTATTTGTTGAGTGAGTGA	GRCh38
NC_000020.10:g.43721890_43721907delinsTATTTGTTGAGTGAGTGA , CM000682.1:g.43721890_43721907delinsTATTTGTTGAGTGAGTGA	GRCh37
NC_000020.9:g.43155304_43155321delinsTATTTGTTGAGTGAGTGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537075.3:c.*1604_*1621delinsTCACTCACTCAACAAATA MANE Select	ENSP00000445595.1:n.*1604_*1621delinsTCACTCACTCAACAAATA
ENST00000306117.5:c.*1604_*1621delinsTCACTCACTCAACAAATA	ENSP00000307694.1:n.*1604_*1621delinsTCACTCACTCAACAAATA
NM_002251.3:c.*1604_*1621delinsTCACTCACTCAACAAATA	NP_002242.2:n.*1604_*1621delinsTCACTCACTCAACAAATA
XM_005260409.3:c.*1604_*1621delinsTCACTCACTCAACAAATA	XP_005260466.1:n.*1604_*1621delinsTCACTCACTCAACAAATA
NM_001322799.1:c.*1604_*1621delinsTCACTCACTCAACAAATA	NP_001309728.1:n.*1604_*1621delinsTCACTCACTCAACAAATA
NM_002251.4:c.*1604_*1621delinsTCACTCACTCAACAAATA	NP_002242.2:n.*1604_*1621delinsTCACTCACTCAACAAATA
XM_017027846.1:c.*1604_*1621delinsTCACTCACTCAACAAATA	XP_016883335.1:n.*1604_*1621delinsTCACTCACTCAACAAATA
NM_001322799.2:c.*1604_*1621delinsTCACTCACTCAACAAATA MANE Select	NP_001309728.1:n.*1604_*1621delinsTCACTCACTCAACAAATA
NM_002251.5:c.*1604_*1621delinsTCACTCACTCAACAAATA	NP_002242.2:n.*1604_*1621delinsTCACTCACTCAACAAATA