Canonical Allele Identifier: CA2790204325

Gene: KCNQ1 KCNQ1OT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2661920_2661921dup , CM000673.2:g.2661920_2661921dup	GRCh38
NC_000011.9:g.2683150_2683151dup , CM000673.1:g.2683150_2683151dup	GRCh37
NC_000011.8:g.2639726_2639727dup	NCBI36
NG_008935.1:g.221930_221931dup , LRG_287:g.221930_221931dup
NG_016178.2:g.43079_43080dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1037-41_1037-40dup (KCNQ1)	ENSP00000434560.2:n.1037-41_1037-40dup
ENST00000646564.2:c.854-41_854-40dup (KCNQ1)	ENSP00000495806.2:n.854-41_854-40dup
ENST00000155840.12:c.1394-41_1394-40dup (KCNQ1) MANE Select	ENSP00000155840.2:n.1394-41_1394-40dup
ENST00000335475.6:c.1013-41_1013-40dup (KCNQ1)	ENSP00000334497.5:n.1013-41_1013-40dup
ENST00000646564.1:c.500-41_500-40dup (KCNQ1)	ENSP00000495806.1:n.500-41_500-40dup
ENST00000155840.9:c.1394-41_1394-40dup (KCNQ1)	ENSP00000155840.2:n.1394-41_1394-40dup
ENST00000335475.5:c.1013-41_1013-40dup (KCNQ1)	ENSP00000334497.5:n.1013-41_1013-40dup
NM_000218.2:c.1394-41_1394-40dup , LRG_287t1:c.1394-41_1394-40dup (KCNQ1)	NP_000209.2:n.1394-41_1394-40dup
NM_181798.1:c.1013-41_1013-40dup , LRG_287t2:c.1013-41_1013-40dup (KCNQ1)	NP_861463.1:n.1013-41_1013-40dup
NR_002728.3:n.38079_38080dup (KCNQ1OT1)
NM_000218.3:c.1394-41_1394-40dup (KCNQ1) MANE Select	NP_000209.2:n.1394-41_1394-40dup