Canonical Allele Identifier: CA2612007141

Gene: KCNQ1 KCNQ1OT1

Linked Data

• gnomAD v4: 11-2662388-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662389_2662390del , CM000673.2:g.2662389_2662390del	GRCh38
NC_000011.9:g.2683619_2683620del , CM000673.1:g.2683619_2683620del	GRCh37
NC_000011.8:g.2640195_2640196del	NCBI36
NG_008935.1:g.222399_222400del , LRG_287:g.222399_222400del
NG_016178.2:g.42609_42610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157+308_1157+309del (KCNQ1)	ENSP00000434560.2:n.1157+308_1157+309del
ENST00000646564.2:c.974+308_974+309del (KCNQ1)	ENSP00000495806.2:n.974+308_974+309del
ENST00000155840.12:c.1514+308_1514+309del (KCNQ1) MANE Select	ENSP00000155840.2:n.1514+308_1514+309del
ENST00000335475.6:c.1133+308_1133+309del (KCNQ1)	ENSP00000334497.5:n.1133+308_1133+309del
ENST00000646564.1:c.620+308_620+309del (KCNQ1)	ENSP00000495806.1:n.620+308_620+309del
ENST00000155840.9:c.1514+308_1514+309del (KCNQ1)	ENSP00000155840.2:n.1514+308_1514+309del
ENST00000335475.5:c.1133+308_1133+309del (KCNQ1)	ENSP00000334497.5:n.1133+308_1133+309del
NM_000218.2:c.1514+308_1514+309del , LRG_287t1:c.1514+308_1514+309del (KCNQ1)	NP_000209.2:n.1514+308_1514+309del
NM_181798.1:c.1133+308_1133+309del , LRG_287t2:c.1133+308_1133+309del (KCNQ1)	NP_861463.1:n.1133+308_1133+309del
NR_002728.3:n.37609_37610del (KCNQ1OT1)
NM_000218.3:c.1514+308_1514+309del (KCNQ1) MANE Select	NP_000209.2:n.1514+308_1514+309del