Canonical Allele Identifier: CA1948310114

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768924_2768925delinsGC , CM000673.2:g.2768924_2768925delinsGC	GRCh38
NC_000011.9:g.2790154_2790155delinsGC , CM000673.1:g.2790154_2790155delinsGC	GRCh37
NC_000011.8:g.2746730_2746731delinsGC	NCBI36
NG_008935.1:g.328934_328935delinsGC , LRG_287:g.328934_328935delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1233+5_1233+6delinsGC	ENSP00000434560.2:n.1233+5_1233+6delinsGC
ENST00000646564.2:c.1050+5_1050+6delinsGC	ENSP00000495806.2:n.1050+5_1050+6delinsGC
ENST00000155840.12:c.1590+5_1590+6delinsGC MANE Select	ENSP00000155840.2:n.1590+5_1590+6delinsGC
ENST00000335475.6:c.1209+5_1209+6delinsGC	ENSP00000334497.5:n.1209+5_1209+6delinsGC
ENST00000646564.1:c.696+5_696+6delinsGC	ENSP00000495806.1:n.696+5_696+6delinsGC
ENST00000155840.9:c.1590+5_1590+6delinsGC	ENSP00000155840.2:n.1590+5_1590+6delinsGC
ENST00000335475.5:c.1209+5_1209+6delinsGC	ENSP00000334497.5:n.1209+5_1209+6delinsGC
NM_000218.2:c.1590+5_1590+6delinsGC , LRG_287t1:c.1590+5_1590+6delinsGC	NP_000209.2:n.1590+5_1590+6delinsGC
NM_181798.1:c.1209+5_1209+6delinsGC , LRG_287t2:c.1209+5_1209+6delinsGC	NP_861463.1:n.1209+5_1209+6delinsGC
NM_000218.3:c.1590+5_1590+6delinsGC MANE Select	NP_000209.2:n.1590+5_1590+6delinsGC