Canonical Allele Identifier: CA2577482813

Gene: KCNE1

Linked Data

• gnomAD v4: 21-34449479-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34449482del , CM000683.2:g.34449482del	GRCh38
NG_009091.1:g.66836del , LRG_290:g.66836del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399286.3:c.155del MANE Select	ENSP00000382226.2:p.Gly52AspfsTer12
ENST00000337385.7:c.155del	ENSP00000337255.3:p.Gly52AspfsTer12
ENST00000399284.1:c.155del	ENSP00000382225.1:p.Gly52AspfsTer12
ENST00000399286.2:c.155del	ENSP00000382226.2:p.Gly52AspfsTer12
ENST00000399289.7:c.155del	ENSP00000382228.3:p.Gly52AspfsTer12
ENST00000416357.6:c.155del	ENSP00000416258.2:p.Gly52AspfsTer12
ENST00000432085.5:c.155del	ENSP00000412498.1:p.Gly52AspfsTer12
ENST00000611936.1:c.155del	ENSP00000478215.1:p.Gly52AspfsTer12
ENST00000621601.4:c.155del	ENSP00000483895.1:p.Gly52AspfsTer12
NM_000219.5:c.155del	NP_000210.2:p.Gly52AspfsTer12
NM_001127668.3:c.155del	NP_001121140.1:p.Gly52AspfsTer12
NM_001127669.3:c.155del	NP_001121141.1:p.Gly52AspfsTer12
NM_001127670.3:c.155del	NP_001121142.1:p.Gly52AspfsTer12
NM_001270402.2:c.155del	NP_001257331.1:p.Gly52AspfsTer12
NM_001270403.2:c.155del	NP_001257332.1:p.Gly52AspfsTer12
NM_001270404.2:c.155del	NP_001257333.1:p.Gly52AspfsTer12
NM_001270405.2:c.155del	NP_001257334.1:p.Gly52AspfsTer12
XM_011529555.1:c.13+5906del	XP_011527857.1:n.13+5906del
XM_011529557.1:c.279+9174del	XP_011527859.1:n.279+9174del
XM_017028342.1:c.218del	XP_016883831.1:p.Gly73AspfsTer12
NM_000219.6:c.155del MANE Select	NP_000210.2:p.Gly52AspfsTer12
NM_001127669.4:c.155del	NP_001121141.1:p.Gly52AspfsTer12
NM_001127668.4:c.155del	NP_001121140.1:p.Gly52AspfsTer12
NM_001127670.4:c.155del	NP_001121142.1:p.Gly52AspfsTer12
NM_001270402.3:c.155del	NP_001257331.1:p.Gly52AspfsTer12
NM_001270404.3:c.155del	NP_001257333.1:p.Gly52AspfsTer12
NM_001270405.3:c.155del	NP_001257334.1:p.Gly52AspfsTer12