Canonical Allele Identifier: CA2612006404

Gene: KCNQ1 KCNQ1OT1

Linked Data

• gnomAD v4: 11-2631422-GTTTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2631426_2631430del , CM000673.2:g.2631426_2631430del	GRCh38
NC_000011.9:g.2652656_2652660del , CM000673.1:g.2652656_2652660del	GRCh37
NC_000011.8:g.2609232_2609236del	NCBI36
NG_008935.1:g.191436_191440del , LRG_287:g.191436_191440del
NG_016178.2:g.73572_73576del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1037-30535_1037-30531del (KCNQ1)	ENSP00000434560.2:n.1037-30535_1037-30531del
ENST00000646564.2:c.854-30535_854-30531del (KCNQ1)	ENSP00000495806.2:n.854-30535_854-30531del
ENST00000155840.12:c.1394-30535_1394-30531del (KCNQ1) MANE Select	ENSP00000155840.2:n.1394-30535_1394-30531del
ENST00000335475.6:c.1013-30535_1013-30531del (KCNQ1)	ENSP00000334497.5:n.1013-30535_1013-30531del
ENST00000646564.1:c.500-30535_500-30531del (KCNQ1)	ENSP00000495806.1:n.500-30535_500-30531del
ENST00000155840.9:c.1394-30535_1394-30531del (KCNQ1)	ENSP00000155840.2:n.1394-30535_1394-30531del
ENST00000335475.5:c.1013-30535_1013-30531del (KCNQ1)	ENSP00000334497.5:n.1013-30535_1013-30531del
NM_000218.2:c.1394-30535_1394-30531del , LRG_287t1:c.1394-30535_1394-30531del (KCNQ1)	NP_000209.2:n.1394-30535_1394-30531del
NM_181798.1:c.1013-30535_1013-30531del , LRG_287t2:c.1013-30535_1013-30531del (KCNQ1)	NP_861463.1:n.1013-30535_1013-30531del
NR_002728.3:n.68572_68576del (KCNQ1OT1)
NM_000218.3:c.1394-30535_1394-30531del (KCNQ1) MANE Select	NP_000209.2:n.1394-30535_1394-30531del