Canonical Allele Identifier: CA1948248222

Gene: KCNQ1 KCNQ1OT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662220_2662221delinsGC , CM000673.2:g.2662220_2662221delinsGC	GRCh38
NC_000011.9:g.2683450_2683451delinsGC , CM000673.1:g.2683450_2683451delinsGC	GRCh37
NC_000011.8:g.2640026_2640027delinsGC	NCBI36
NG_008935.1:g.222230_222231delinsGC , LRG_287:g.222230_222231delinsGC
NG_016178.2:g.42778_42779delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157+139_1157+140delinsGC (KCNQ1)	ENSP00000434560.2:n.1157+139_1157+140delinsGC
ENST00000646564.2:c.974+139_974+140delinsGC (KCNQ1)	ENSP00000495806.2:n.974+139_974+140delinsGC
ENST00000155840.12:c.1514+139_1514+140delinsGC (KCNQ1) MANE Select	ENSP00000155840.2:n.1514+139_1514+140delinsGC
ENST00000335475.6:c.1133+139_1133+140delinsGC (KCNQ1)	ENSP00000334497.5:n.1133+139_1133+140delinsGC
ENST00000646564.1:c.620+139_620+140delinsGC (KCNQ1)	ENSP00000495806.1:n.620+139_620+140delinsGC
ENST00000155840.9:c.1514+139_1514+140delinsGC (KCNQ1)	ENSP00000155840.2:n.1514+139_1514+140delinsGC
ENST00000335475.5:c.1133+139_1133+140delinsGC (KCNQ1)	ENSP00000334497.5:n.1133+139_1133+140delinsGC
NM_000218.2:c.1514+139_1514+140delinsGC , LRG_287t1:c.1514+139_1514+140delinsGC (KCNQ1)	NP_000209.2:n.1514+139_1514+140delinsGC
NM_181798.1:c.1133+139_1133+140delinsGC , LRG_287t2:c.1133+139_1133+140delinsGC (KCNQ1)	NP_861463.1:n.1133+139_1133+140delinsGC
NR_002728.3:n.37778_37779delinsGC (KCNQ1OT1)
NM_000218.3:c.1514+139_1514+140delinsGC (KCNQ1) MANE Select	NP_000209.2:n.1514+139_1514+140delinsGC