Canonical Allele Identifier: CA1948310344

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2769179_2769182delinsGGCA , CM000673.2:g.2769179_2769182delinsGGCA	GRCh38
NC_000011.9:g.2790409_2790412delinsGGCA , CM000673.1:g.2790409_2790412delinsGGCA	GRCh37
NC_000011.8:g.2746985_2746988delinsGGCA	NCBI36
NG_008935.1:g.329189_329192delinsGGCA , LRG_287:g.329189_329192delinsGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1233+260_1233+263delinsGGCA	ENSP00000434560.2:n.1233+260_1233+263delinsGGCA
ENST00000646564.2:c.1050+260_1050+263delinsGGCA	ENSP00000495806.2:n.1050+260_1050+263delinsGGCA
ENST00000155840.12:c.1590+260_1590+263delinsGGCA MANE Select	ENSP00000155840.2:n.1590+260_1590+263delinsGGCA
ENST00000335475.6:c.1209+260_1209+263delinsGGCA	ENSP00000334497.5:n.1209+260_1209+263delinsGGCA
ENST00000646564.1:c.696+260_696+263delinsGGCA	ENSP00000495806.1:n.696+260_696+263delinsGGCA
ENST00000155840.9:c.1590+260_1590+263delinsGGCA	ENSP00000155840.2:n.1590+260_1590+263delinsGGCA
ENST00000335475.5:c.1209+260_1209+263delinsGGCA	ENSP00000334497.5:n.1209+260_1209+263delinsGGCA
NM_000218.2:c.1590+260_1590+263delinsGGCA , LRG_287t1:c.1590+260_1590+263delinsGGCA	NP_000209.2:n.1590+260_1590+263delinsGGCA
NM_181798.1:c.1209+260_1209+263delinsGGCA , LRG_287t2:c.1209+260_1209+263delinsGGCA	NP_861463.1:n.1209+260_1209+263delinsGGCA
NM_000218.3:c.1590+260_1590+263delinsGGCA MANE Select	NP_000209.2:n.1590+260_1590+263delinsGGCA