Canonical Allele Identifier: CA1948248260

Gene: KCNQ1 KCNQ1OT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662232_2662233delinsAG , CM000673.2:g.2662232_2662233delinsAG	GRCh38
NC_000011.9:g.2683462_2683463delinsAG , CM000673.1:g.2683462_2683463delinsAG	GRCh37
NC_000011.8:g.2640038_2640039delinsAG	NCBI36
NG_008935.1:g.222242_222243delinsAG , LRG_287:g.222242_222243delinsAG
NG_016178.2:g.42766_42767delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157+151_1157+152delinsAG (KCNQ1)	ENSP00000434560.2:n.1157+151_1157+152delinsAG
ENST00000646564.2:c.974+151_974+152delinsAG (KCNQ1)	ENSP00000495806.2:n.974+151_974+152delinsAG
ENST00000155840.12:c.1514+151_1514+152delinsAG (KCNQ1) MANE Select	ENSP00000155840.2:n.1514+151_1514+152delinsAG
ENST00000335475.6:c.1133+151_1133+152delinsAG (KCNQ1)	ENSP00000334497.5:n.1133+151_1133+152delinsAG
ENST00000646564.1:c.620+151_620+152delinsAG (KCNQ1)	ENSP00000495806.1:n.620+151_620+152delinsAG
ENST00000155840.9:c.1514+151_1514+152delinsAG (KCNQ1)	ENSP00000155840.2:n.1514+151_1514+152delinsAG
ENST00000335475.5:c.1133+151_1133+152delinsAG (KCNQ1)	ENSP00000334497.5:n.1133+151_1133+152delinsAG
NM_000218.2:c.1514+151_1514+152delinsAG , LRG_287t1:c.1514+151_1514+152delinsAG (KCNQ1)	NP_000209.2:n.1514+151_1514+152delinsAG
NM_181798.1:c.1133+151_1133+152delinsAG , LRG_287t2:c.1133+151_1133+152delinsAG (KCNQ1)	NP_861463.1:n.1133+151_1133+152delinsAG
NR_002728.3:n.37766_37767delinsCT (KCNQ1OT1)
NM_000218.3:c.1514+151_1514+152delinsAG (KCNQ1) MANE Select	NP_000209.2:n.1514+151_1514+152delinsAG