Canonical Allele Identifier: CA2654363456

Gene: KCNE1

Linked Data

• gnomAD v4: 21-34449516-CCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34449517_34449518del , CM000683.2:g.34449517_34449518del	GRCh38
NG_009091.1:g.66798_66799del , LRG_290:g.66798_66799del

Transcript Alleles

HGVS	Amino-acid change
ENST00000399286.3:c.117_118del MANE Select	ENSP00000382226.2:p.Asp39GlufsTer?
ENST00000337385.7:c.117_118del	ENSP00000337255.3:p.Asp39GlufsTer?
ENST00000399284.1:c.117_118del	ENSP00000382225.1:p.Asp39GlufsTer?
ENST00000399286.2:c.117_118del	ENSP00000382226.2:p.Asp39GlufsTer?
ENST00000399289.7:c.117_118del	ENSP00000382228.3:p.Asp39GlufsTer?
ENST00000416357.6:c.117_118del	ENSP00000416258.2:p.Asp39GlufsTer?
ENST00000432085.5:c.117_118del	ENSP00000412498.1:p.Asp39GlufsTer?
ENST00000611936.1:c.117_118del	ENSP00000478215.1:p.Asp39GlufsTer?
ENST00000621601.4:c.117_118del	ENSP00000483895.1:p.Asp39GlufsTer?
NM_000219.5:c.117_118del	NP_000210.2:p.Asp39GlufsTer?
NM_001127668.3:c.117_118del	NP_001121140.1:p.Asp39GlufsTer?
NM_001127669.3:c.117_118del	NP_001121141.1:p.Asp39GlufsTer?
NM_001127670.3:c.117_118del	NP_001121142.1:p.Asp39GlufsTer?
NM_001270402.2:c.117_118del	NP_001257331.1:p.Asp39GlufsTer?
NM_001270403.2:c.117_118del	NP_001257332.1:p.Asp39GlufsTer?
NM_001270404.2:c.117_118del	NP_001257333.1:p.Asp39GlufsTer?
NM_001270405.2:c.117_118del	NP_001257334.1:p.Asp39GlufsTer?
XM_011529555.1:c.13+5868_13+5869del	XP_011527857.1:n.13+5868_13+5869del
XM_011529557.1:c.279+9136_279+9137del	XP_011527859.1:n.279+9136_279+9137del
XM_017028342.1:c.180_181del	XP_016883831.1:p.Asp60GlufsTer?
NM_000219.6:c.117_118del MANE Select	NP_000210.2:p.Asp39GlufsTer?
NM_001127669.4:c.117_118del	NP_001121141.1:p.Asp39GlufsTer?
NM_001127668.4:c.117_118del	NP_001121140.1:p.Asp39GlufsTer?
NM_001127670.4:c.117_118del	NP_001121142.1:p.Asp39GlufsTer?
NM_001270402.3:c.117_118del	NP_001257331.1:p.Asp39GlufsTer?
NM_001270404.3:c.117_118del	NP_001257333.1:p.Asp39GlufsTer?
NM_001270405.3:c.117_118del	NP_001257334.1:p.Asp39GlufsTer?