Canonical Allele Identifier: CA2612007134

Gene: KCNQ1 KCNQ1OT1

Linked Data

• gnomAD v4: 11-2662376-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662377_2662378del , CM000673.2:g.2662377_2662378del	GRCh38
NC_000011.9:g.2683607_2683608del , CM000673.1:g.2683607_2683608del	GRCh37
NC_000011.8:g.2640183_2640184del	NCBI36
NG_008935.1:g.222387_222388del , LRG_287:g.222387_222388del
NG_016178.2:g.42621_42622del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157+296_1157+297del (KCNQ1)	ENSP00000434560.2:n.1157+296_1157+297del
ENST00000646564.2:c.974+296_974+297del (KCNQ1)	ENSP00000495806.2:n.974+296_974+297del
ENST00000155840.12:c.1514+296_1514+297del (KCNQ1) MANE Select	ENSP00000155840.2:n.1514+296_1514+297del
ENST00000335475.6:c.1133+296_1133+297del (KCNQ1)	ENSP00000334497.5:n.1133+296_1133+297del
ENST00000646564.1:c.620+296_620+297del (KCNQ1)	ENSP00000495806.1:n.620+296_620+297del
ENST00000155840.9:c.1514+296_1514+297del (KCNQ1)	ENSP00000155840.2:n.1514+296_1514+297del
ENST00000335475.5:c.1133+296_1133+297del (KCNQ1)	ENSP00000334497.5:n.1133+296_1133+297del
NM_000218.2:c.1514+296_1514+297del , LRG_287t1:c.1514+296_1514+297del (KCNQ1)	NP_000209.2:n.1514+296_1514+297del
NM_181798.1:c.1133+296_1133+297del , LRG_287t2:c.1133+296_1133+297del (KCNQ1)	NP_861463.1:n.1133+296_1133+297del
NR_002728.3:n.37621_37622del (KCNQ1OT1)
NM_000218.3:c.1514+296_1514+297del (KCNQ1) MANE Select	NP_000209.2:n.1514+296_1514+297del