Canonical Allele Identifier: CA085426

Gene: KCNE1

Linked Data

• ClinVar Variation Id: 13475
• ClinVar RCV Id: RCV000014417 ; RCV001244610 ; RCV001588813 ; RCV002476967
• dbSNP Id: rs281865421
• MyVariant Identifiers: chr21:g.34449458_34449463delinsAGGGGG (hg38)
• PubMed: PMID:9328483

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34449458_34449463delinsAGGGGG , CM000683.2:g.34449458_34449463delinsAGGGGG	GRCh38
NG_009091.1:g.66853_66858delinsCCCCCT , LRG_290:g.66853_66858delinsCCCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399286.3:c.172_177delinsCCCCCT MANE Select	ENSP00000382226.2:p.Thr58_Leu59delinsProPro
ENST00000337385.7:c.172_177delinsCCCCCT	ENSP00000337255.3:p.Thr58_Leu59delinsProPro
ENST00000399284.1:c.172_177delinsCCCCCT	ENSP00000382225.1:p.Thr58_Leu59delinsProPro
ENST00000399286.2:c.172_177delinsCCCCCT	ENSP00000382226.2:p.Thr58_Leu59delinsProPro
ENST00000399289.7:c.172_177delinsCCCCCT	ENSP00000382228.3:p.Thr58_Leu59delinsProPro
ENST00000416357.6:c.172_177delinsCCCCCT	ENSP00000416258.2:p.Thr58_Leu59delinsProPro
ENST00000432085.5:c.172_177delinsCCCCCT	ENSP00000412498.1:p.Thr58_Leu59delinsProPro
ENST00000611936.1:c.172_177delinsCCCCCT	ENSP00000478215.1:p.Thr58_Leu59delinsProPro
ENST00000621601.4:c.172_177delinsCCCCCT	ENSP00000483895.1:p.Thr58_Leu59delinsProPro
NM_000219.5:c.172_177delinsCCCCCT	NP_000210.2:p.Thr58_Leu59delinsProPro
NM_001127668.3:c.172_177delinsCCCCCT	NP_001121140.1:p.Thr58_Leu59delinsProPro
NM_001127669.3:c.172_177delinsCCCCCT	NP_001121141.1:p.Thr58_Leu59delinsProPro
NM_001127670.3:c.172_177delinsCCCCCT	NP_001121142.1:p.Thr58_Leu59delinsProPro
NM_001270402.2:c.172_177delinsCCCCCT	NP_001257331.1:p.Thr58_Leu59delinsProPro
NM_001270403.2:c.172_177delinsCCCCCT	NP_001257332.1:p.Thr58_Leu59delinsProPro
NM_001270404.2:c.172_177delinsCCCCCT	NP_001257333.1:p.Thr58_Leu59delinsProPro
NM_001270405.2:c.172_177delinsCCCCCT	NP_001257334.1:p.Thr58_Leu59delinsProPro
XM_011529555.1:c.13+5923_13+5928delinsCCCCCT	XP_011527857.1:n.13+5923_13+5928delinsCCCCCT
XM_011529557.1:c.279+9191_279+9196delinsCCCCCT	XP_011527859.1:n.279+9191_279+9196delinsCCCCCT
XM_017028342.1:c.235_240delinsCCCCCT	XP_016883831.1:p.Thr79_Leu80delinsProPro
NM_000219.6:c.172_177delinsCCCCCT MANE Select	NP_000210.2:p.Thr58_Leu59delinsProPro
NM_001127669.4:c.172_177delinsCCCCCT	NP_001121141.1:p.Thr58_Leu59delinsProPro
NM_001127668.4:c.172_177delinsCCCCCT	NP_001121140.1:p.Thr58_Leu59delinsProPro
NM_001127670.4:c.172_177delinsCCCCCT	NP_001121142.1:p.Thr58_Leu59delinsProPro
NM_001270402.3:c.172_177delinsCCCCCT	NP_001257331.1:p.Thr58_Leu59delinsProPro
NM_001270404.3:c.172_177delinsCCCCCT	NP_001257333.1:p.Thr58_Leu59delinsProPro
NM_001270405.3:c.172_177delinsCCCCCT	NP_001257334.1:p.Thr58_Leu59delinsProPro