Canonical Allele Identifier: CA1948224432
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583365_2583366delinsTG , CM000673.2:g.2583365_2583366delinsTG GRCh38
NC_000011.9:g.2604595_2604596delinsTG , CM000673.1:g.2604595_2604596delinsTG GRCh37
NC_000011.8:g.2561171_2561172delinsTG NCBI36
NG_008935.1:g.143375_143376delinsTG , LRG_287:g.143375_143376delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.661-70_661-69delinsTG ENSP00000434560.2:n.661-70_661-69delinsTG
ENST00000646564.2:c.478-70_478-69delinsTG ENSP00000495806.2:n.478-70_478-69delinsTG
ENST00000155840.12:c.922-70_922-69delinsTG MANE Select ENSP00000155840.2:n.922-70_922-69delinsTG
ENST00000335475.6:c.541-70_541-69delinsTG ENSP00000334497.5:n.541-70_541-69delinsTG
ENST00000646564.1:c.124-70_124-69delinsTG ENSP00000495806.1:n.124-70_124-69delinsTG
ENST00000155840.9:c.922-70_922-69delinsTG ENSP00000155840.2:n.922-70_922-69delinsTG
ENST00000335475.5:c.541-70_541-69delinsTG ENSP00000334497.5:n.541-70_541-69delinsTG
NM_000218.2:c.922-70_922-69delinsTG , LRG_287t1:c.922-70_922-69delinsTG NP_000209.2:n.922-70_922-69delinsTG
NM_181798.1:c.541-70_541-69delinsTG , LRG_287t2:c.541-70_541-69delinsTG NP_861463.1:n.541-70_541-69delinsTG
NM_000218.3:c.922-70_922-69delinsTG MANE Select NP_000209.2:n.922-70_922-69delinsTG