Canonical Allele Identifier: CA1948247474
Gene: KCNQ1 HGNC NCBI
KCNQ1OT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2661944_2661946delinsCCA , CM000673.2:g.2661944_2661946delinsCCA GRCh38
NC_000011.9:g.2683174_2683176delinsCCA , CM000673.1:g.2683174_2683176delinsCCA GRCh37
NC_000011.8:g.2639750_2639752delinsCCA NCBI36
NG_008935.1:g.221954_221956delinsCCA , LRG_287:g.221954_221956delinsCCA
NG_016178.2:g.43053_43055delinsTGG

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1037-17_1037-15delinsCCA (KCNQ1) ENSP00000434560.2:n.1037-17_1037-15delins...
ENST00000646564.2:c.854-17_854-15delinsCCA (KCNQ1) ENSP00000495806.2:n.854-17_854-15delinsCC...
ENST00000155840.12:c.1394-17_1394-15delinsCCA (KCNQ1) MANE Select ENSP00000155840.2:n.1394-17_1394-15delins...
ENST00000335475.6:c.1013-17_1013-15delinsCCA (KCNQ1) ENSP00000334497.5:n.1013-17_1013-15delins...
ENST00000646564.1:c.500-17_500-15delinsCCA (KCNQ1) ENSP00000495806.1:n.500-17_500-15delinsCC...
ENST00000155840.9:c.1394-17_1394-15delinsCCA (KCNQ1) ENSP00000155840.2:n.1394-17_1394-15delins...
ENST00000335475.5:c.1013-17_1013-15delinsCCA (KCNQ1) ENSP00000334497.5:n.1013-17_1013-15delins...
NM_000218.2:c.1394-17_1394-15delinsCCA , LRG_287t1:c.1394-17_1394-15delinsCCA (KCNQ1) NP_000209.2:n.1394-17_1394-15delinsCCA
NM_181798.1:c.1013-17_1013-15delinsCCA , LRG_287t2:c.1013-17_1013-15delinsCCA (KCNQ1) NP_861463.1:n.1013-17_1013-15delinsCCA
NR_002728.3:n.38053_38055delinsTGG (KCNQ1OT1)
NM_000218.3:c.1394-17_1394-15delinsCCA (KCNQ1) MANE Select NP_000209.2:n.1394-17_1394-15delinsCCA