Canonical Allele Identifier: CA2654365034
Gene: KCNE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34511191del , CM000683.2:g.34511191del GRCh38
NC_000021.8:g.35883489del , CM000683.1:g.35883489del GRCh37
NC_000021.7:g.34805359del NCBI36
NG_009091.1:g.5125del , LRG_290:g.5125del

Transcript Alleles

HGVS Amino-acid change
ENST00000682732.1:n.881del
ENST00000683028.1:n.312del
ENST00000683564.1:n.313del
ENST00000684073.1:n.313del
ENST00000684114.1:c.805del
ENST00000684327.1:n.313del
ENST00000684541.1:c.*294del ENSP00000508287.1:n.*294del
ENST00000684616.1:n.374del
ENST00000399286.3:c.-252del MANE Select ENSP00000382226.2:n.-252del
ENST00000337385.7:c.-252del ENSP00000337255.3:n.-252del
ENST00000399284.1:c.-224del ENSP00000382225.1:n.-224del
ENST00000399286.2:c.-252del ENSP00000382226.2:n.-252del
ENST00000489175.1:n.306del
ENST00000611936.1:c.-141del ENSP00000478215.1:n.-141del
NM_000219.5:c.-252del NP_000210.2:n.-252del
NM_001270402.2:c.-252del NP_001257331.1:n.-252del
NM_001270403.2:c.-224del NP_001257332.1:n.-224del
NM_001270404.2:c.-141del NP_001257333.1:n.-141del
XM_011529557.1:c.78del XP_011527859.1:p.Lys27SerfsTer3
NM_000219.6:c.-252del MANE Select NP_000210.2:n.-252del
NM_001270402.3:c.-252del NP_001257331.1:n.-252del
NM_001270404.3:c.-141del NP_001257333.1:n.-141del