Canonical Allele Identifier: CA1948239892

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570719_2570724delinsGGCTGC , CM000673.2:g.2570719_2570724delinsGGCTGC	GRCh38
NC_000011.9:g.2591949_2591954delinsGGCTGC , CM000673.1:g.2591949_2591954delinsGGCTGC	GRCh37
NC_000011.8:g.2548525_2548530delinsGGCTGC	NCBI36
NG_008935.1:g.130729_130734delinsGGCTGC , LRG_287:g.130729_130734delinsGGCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.308_313delinsGGCTGC	ENSP00000434560.2:p.Arg103=
ENST00000646564.2:c.478-12716_478-12711delinsGGCTGC	ENSP00000495806.2:n.478-12716_478-12711delinsGGCTGC
ENST00000155840.12:c.569_574delinsGGCTGC MANE Select	ENSP00000155840.2:p.Arg190=
ENST00000335475.6:c.188_193delinsGGCTGC	ENSP00000334497.5:p.Arg63=
ENST00000646564.1:c.124-12716_124-12711delinsGGCTGC	ENSP00000495806.1:n.124-12716_124-12711delinsGGCTGC
ENST00000155840.9:c.569_574delinsGGCTGC	ENSP00000155840.2:p.Arg190=
ENST00000335475.5:c.188_193delinsGGCTGC	ENSP00000334497.5:p.Arg63=
ENST00000496887.6:c.308_313delinsGGCTGC	ENSP00000434560.1:p.Arg103=
NM_000218.2:c.569_574delinsGGCTGC , LRG_287t1:c.569_574delinsGGCTGC	NP_000209.2:p.Arg190=
NM_181798.1:c.188_193delinsGGCTGC , LRG_287t2:c.188_193delinsGGCTGC	NP_861463.1:p.Arg63=
NM_000218.3:c.569_574delinsGGCTGC MANE Select	NP_000209.2:p.Arg190=