Canonical Allele Identifier: CA2612007080

Gene: KCNQ1 KCNQ1OT1

Linked Data

• gnomAD v4: 11-2662174-AGAGTGCTATCTACTCGCCTAGTGCCCACCACTTGCCGTCTGCCTGGCCCCAACACGGAGGCACCAGGCAAGAGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662178_2662252del , CM000673.2:g.2662178_2662252del	GRCh38
NC_000011.9:g.2683408_2683482del , CM000673.1:g.2683408_2683482del	GRCh37
NC_000011.8:g.2639984_2640058del	NCBI36
NG_008935.1:g.222188_222262del , LRG_287:g.222188_222262del
NG_016178.2:g.42750_42824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157+97_1157+171del (KCNQ1)	ENSP00000434560.2:n.1157+97_1157+171del
ENST00000646564.2:c.974+97_974+171del (KCNQ1)	ENSP00000495806.2:n.974+97_974+171del
ENST00000155840.12:c.1514+97_1514+171del (KCNQ1) MANE Select	ENSP00000155840.2:n.1514+97_1514+171del
ENST00000335475.6:c.1133+97_1133+171del (KCNQ1)	ENSP00000334497.5:n.1133+97_1133+171del
ENST00000646564.1:c.620+97_620+171del (KCNQ1)	ENSP00000495806.1:n.620+97_620+171del
ENST00000155840.9:c.1514+97_1514+171del (KCNQ1)	ENSP00000155840.2:n.1514+97_1514+171del
ENST00000335475.5:c.1133+97_1133+171del (KCNQ1)	ENSP00000334497.5:n.1133+97_1133+171del
NM_000218.2:c.1514+97_1514+171del , LRG_287t1:c.1514+97_1514+171del (KCNQ1)	NP_000209.2:n.1514+97_1514+171del
NM_181798.1:c.1133+97_1133+171del , LRG_287t2:c.1133+97_1133+171del (KCNQ1)	NP_861463.1:n.1133+97_1133+171del
NR_002728.3:n.37750_37824del (KCNQ1OT1)
NM_000218.3:c.1514+97_1514+171del (KCNQ1) MANE Select	NP_000209.2:n.1514+97_1514+171del