Canonical Allele Identifier: CA2790204332

Gene: KCNQ1 KCNQ1OT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662159_2662160insTGTTGGTT , CM000673.2:g.2662159_2662160insTGTTGGTT	GRCh38
NC_000011.9:g.2683389_2683390insTGTTGGTT , CM000673.1:g.2683389_2683390insTGTTGGTT	GRCh37
NC_000011.8:g.2639965_2639966insTGTTGGTT	NCBI36
NG_008935.1:g.222169_222170insTGTTGGTT , LRG_287:g.222169_222170insTGTTGGTT
NG_016178.2:g.42839_42840insAACCAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157+78_1157+79insTGTTGGTT (KCNQ1)	ENSP00000434560.2:n.1157+78_1157+79insTGTTGGTT
ENST00000646564.2:c.974+78_974+79insTGTTGGTT (KCNQ1)	ENSP00000495806.2:n.974+78_974+79insTGTTGGTT
ENST00000155840.12:c.1514+78_1514+79insTGTTGGTT (KCNQ1) MANE Select	ENSP00000155840.2:n.1514+78_1514+79insTGTTGGTT
ENST00000335475.6:c.1133+78_1133+79insTGTTGGTT (KCNQ1)	ENSP00000334497.5:n.1133+78_1133+79insTGTTGGTT
ENST00000646564.1:c.620+78_620+79insTGTTGGTT (KCNQ1)	ENSP00000495806.1:n.620+78_620+79insTGTTGGTT
ENST00000155840.9:c.1514+78_1514+79insTGTTGGTT (KCNQ1)	ENSP00000155840.2:n.1514+78_1514+79insTGTTGGTT
ENST00000335475.5:c.1133+78_1133+79insTGTTGGTT (KCNQ1)	ENSP00000334497.5:n.1133+78_1133+79insTGTTGGTT
NM_000218.2:c.1514+78_1514+79insTGTTGGTT , LRG_287t1:c.1514+78_1514+79insTGTTGGTT (KCNQ1)	NP_000209.2:n.1514+78_1514+79insTGTTGGTT
NM_181798.1:c.1133+78_1133+79insTGTTGGTT , LRG_287t2:c.1133+78_1133+79insTGTTGGTT (KCNQ1)	NP_861463.1:n.1133+78_1133+79insTGTTGGTT
NR_002728.3:n.37839_37840insAACCAACA (KCNQ1OT1)
NM_000218.3:c.1514+78_1514+79insTGTTGGTT (KCNQ1) MANE Select	NP_000209.2:n.1514+78_1514+79insTGTTGGTT