Canonical Allele Identifier: CA2366061618

Gene: KCNS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45093085_45093089delinsCTGTT , CM000682.2:g.45093085_45093089delinsCTGTT	GRCh38
NC_000020.10:g.43721726_43721730delinsCTGTT , CM000682.1:g.43721726_43721730delinsCTGTT	GRCh37
NC_000020.9:g.43155140_43155144delinsCTGTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537075.3:c.*1781_*1785delinsAACAG MANE Select	ENSP00000445595.1:n.*1781_*1785delinsAACAG
ENST00000306117.5:c.*1781_*1785delinsAACAG	ENSP00000307694.1:n.*1781_*1785delinsAACAG
NM_002251.3:c.*1781_*1785delinsAACAG	NP_002242.2:n.*1781_*1785delinsAACAG
XM_005260409.3:c.*1781_*1785delinsAACAG	XP_005260466.1:n.*1781_*1785delinsAACAG
NM_001322799.1:c.*1781_*1785delinsAACAG	NP_001309728.1:n.*1781_*1785delinsAACAG
NM_002251.4:c.*1781_*1785delinsAACAG	NP_002242.2:n.*1781_*1785delinsAACAG
XM_017027846.1:c.*1781_*1785delinsAACAG	XP_016883335.1:n.*1781_*1785delinsAACAG
NM_001322799.2:c.*1781_*1785delinsAACAG MANE Select	NP_001309728.1:n.*1781_*1785delinsAACAG
NM_002251.5:c.*1781_*1785delinsAACAG	NP_002242.2:n.*1781_*1785delinsAACAG