Canonical Allele Identifier: CA2695212963

Gene: KCNQ1 KCNQ1OT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662080_2662081delinsTGTGC , CM000673.2:g.2662080_2662081delinsTGTGC	GRCh38
NC_000011.9:g.2683310_2683311delinsTGTGC , CM000673.1:g.2683310_2683311delinsTGTGC	GRCh37
NC_000011.8:g.2639886_2639887delinsTGTGC	NCBI36
NG_008935.1:g.222090_222091delinsTGTGC , LRG_287:g.222090_222091delinsTGTGC
NG_016178.2:g.42918_42919delinsGCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1156_1157delinsTGTGC (KCNQ1)	ENSP00000434560.2:p.Gln386delinsCysAla
ENST00000646564.2:c.973_974delinsTGTGC (KCNQ1)	ENSP00000495806.2:p.Gln325delinsCysAla
ENST00000155840.12:c.1513_1514delinsTGTGC (KCNQ1) MANE Select	ENSP00000155840.2:p.Gln505delinsCysAla
ENST00000335475.6:c.1132_1133delinsTGTGC (KCNQ1)	ENSP00000334497.5:p.Gln378delinsCysAla
ENST00000646564.1:c.619_620delinsTGTGC (KCNQ1)	ENSP00000495806.1:p.Gln207delinsCysAla
ENST00000155840.9:c.1513_1514delinsTGTGC (KCNQ1)	ENSP00000155840.2:p.Gln505delinsCysAla
ENST00000335475.5:c.1132_1133delinsTGTGC (KCNQ1)	ENSP00000334497.5:p.Gln378delinsCysAla
NM_000218.2:c.1513_1514delinsTGTGC , LRG_287t1:c.1513_1514delinsTGTGC (KCNQ1)	NP_000209.2:p.Gln505delinsCysAla
NM_181798.1:c.1132_1133delinsTGTGC , LRG_287t2:c.1132_1133delinsTGTGC (KCNQ1)	NP_861463.1:p.Gln378delinsCysAla
NR_002728.3:n.37918_37919delinsGCACA (KCNQ1OT1)
NM_000218.3:c.1513_1514delinsTGTGC (KCNQ1) MANE Select	NP_000209.2:p.Gln505delinsCysAla