Canonical Allele Identifier: CA1948171362

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2463418_2463419delinsAG , CM000673.2:g.2463418_2463419delinsAG	GRCh38
NC_000011.9:g.2484648_2484649delinsAG , CM000673.1:g.2484648_2484649delinsAG	GRCh37
NC_000011.8:g.2441224_2441225delinsAG	NCBI36
NG_008935.1:g.23428_23429delinsAG , LRG_287:g.23428_23429delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.91+1441_91+1442delinsAG
ENST00000496887.7:c.125+17934_125+17935delinsAG	ENSP00000434560.2:n.125+17934_125+17935delinsAG
ENST00000646564.2:c.386+17934_386+17935delinsAG	ENSP00000495806.2:n.386+17934_386+17935delinsAG
ENST00000155840.12:c.386+17934_386+17935delinsAG MANE Select	ENSP00000155840.2:n.386+17934_386+17935delinsAG
ENST00000335475.6:c.5+1704_5+1705delinsAG	ENSP00000334497.5:n.5+1704_5+1705delinsAG
ENST00000646564.1:c.32+17934_32+17935delinsAG	ENSP00000495806.1:n.32+17934_32+17935delinsAG
ENST00000155840.9:c.386+17934_386+17935delinsAG	ENSP00000155840.2:n.386+17934_386+17935delinsAG
ENST00000335475.5:c.5+1704_5+1705delinsAG	ENSP00000334497.5:n.5+1704_5+1705delinsAG
ENST00000345015.4:n.163+17934_163+17935delinsAG
ENST00000380776.4:c.84+1441_84+1442delinsAG	ENSP00000370153.4:n.84+1441_84+1442delinsAG
ENST00000496887.6:c.125+17934_125+17935delinsAG	ENSP00000434560.1:n.125+17934_125+17935delinsAG
NM_000218.2:c.386+17934_386+17935delinsAG , LRG_287t1:c.386+17934_386+17935delinsAG	NP_000209.2:n.386+17934_386+17935delinsAG
NM_181798.1:c.5+1704_5+1705delinsAG , LRG_287t2:c.5+1704_5+1705delinsAG	NP_861463.1:n.5+1704_5+1705delinsAG
NM_000218.3:c.386+17934_386+17935delinsAG MANE Select	NP_000209.2:n.386+17934_386+17935delinsAG