Canonical Allele Identifier: CA2505682383
Gene: KCNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34507667_34507670del , CM000683.2:g.34507667_34507670del GRCh38
NC_000021.8:g.35879965_35879968del , CM000683.1:g.35879965_35879968del GRCh37
NC_000021.7:g.34801835_34801838del NCBI36
NG_009091.1:g.8646_8649del , LRG_290:g.8646_8649del

Transcript Alleles

HGVS Amino-acid change
ENST00000683028.1:n.403-1912_403-1909del
ENST00000683564.1:n.403+3431_403+3434del
ENST00000684073.1:n.404-1912_404-1909del
ENST00000684327.1:n.403+3431_403+3434del
ENST00000684616.1:n.465-1912_465-1909del
ENST00000399286.3:c.-162+3431_-162+3434del MANE Select ENSP00000382226.2:n.-162+3431_-162+3434del
ENST00000337385.7:c.-162+3431_-162+3434del ENSP00000337255.3:n.-162+3431_-162+3434del
ENST00000399284.1:c.-134+3431_-134+3434del ENSP00000382225.1:n.-134+3431_-134+3434del
ENST00000399286.2:c.-162+3431_-162+3434del ENSP00000382226.2:n.-162+3431_-162+3434del
ENST00000611936.1:c.-51+3431_-51+3434del ENSP00000478215.1:n.-51+3431_-51+3434del
NM_000219.5:c.-162+3431_-162+3434del NP_000210.2:n.-162+3431_-162+3434del
NM_001270402.2:c.-162+3431_-162+3434del NP_001257331.1:n.-162+3431_-162+3434del
NM_001270403.2:c.-134+3431_-134+3434del NP_001257332.1:n.-134+3431_-134+3434del
NM_001270404.2:c.-51+3431_-51+3434del NP_001257333.1:n.-51+3431_-51+3434del
XM_011529557.1:c.168+3431_168+3434del XP_011527859.1:n.168+3431_168+3434del
NM_000219.6:c.-162+3431_-162+3434del MANE Select NP_000210.2:n.-162+3431_-162+3434del
NM_001270402.3:c.-162+3431_-162+3434del NP_001257331.1:n.-162+3431_-162+3434del
NM_001270404.3:c.-51+3431_-51+3434del NP_001257333.1:n.-51+3431_-51+3434del