Canonical Allele Identifier: CA1948310134
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2768933_2768934delinsTG , CM000673.2:g.2768933_2768934delinsTG GRCh38
NC_000011.9:g.2790163_2790164delinsTG , CM000673.1:g.2790163_2790164delinsTG GRCh37
NC_000011.8:g.2746739_2746740delinsTG NCBI36
NG_008935.1:g.328943_328944delinsTG , LRG_287:g.328943_328944delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1233+14_1233+15delinsTG ENSP00000434560.2:n.1233+14_1233+15delinsTG
ENST00000646564.2:c.1050+14_1050+15delinsTG ENSP00000495806.2:n.1050+14_1050+15delinsTG
ENST00000155840.12:c.1590+14_1590+15delinsTG MANE Select ENSP00000155840.2:n.1590+14_1590+15delinsTG
ENST00000335475.6:c.1209+14_1209+15delinsTG ENSP00000334497.5:n.1209+14_1209+15delinsTG
ENST00000646564.1:c.696+14_696+15delinsTG ENSP00000495806.1:n.696+14_696+15delinsTG
ENST00000155840.9:c.1590+14_1590+15delinsTG ENSP00000155840.2:n.1590+14_1590+15delinsTG
ENST00000335475.5:c.1209+14_1209+15delinsTG ENSP00000334497.5:n.1209+14_1209+15delinsTG
NM_000218.2:c.1590+14_1590+15delinsTG , LRG_287t1:c.1590+14_1590+15delinsTG NP_000209.2:n.1590+14_1590+15delinsTG
NM_181798.1:c.1209+14_1209+15delinsTG , LRG_287t2:c.1209+14_1209+15delinsTG NP_861463.1:n.1209+14_1209+15delinsTG
NM_000218.3:c.1590+14_1590+15delinsTG MANE Select NP_000209.2:n.1590+14_1590+15delinsTG