Canonical Allele Identifier: CA1948225095

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583530_2583533delinsCTTT , CM000673.2:g.2583530_2583533delinsCTTT	GRCh38
NC_000011.9:g.2604760_2604763delinsCTTT , CM000673.1:g.2604760_2604763delinsCTTT	GRCh37
NC_000011.8:g.2561336_2561339delinsCTTT	NCBI36
NG_008935.1:g.143540_143543delinsCTTT , LRG_287:g.143540_143543delinsCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.756_759delinsCTTT	ENSP00000434560.2:p.Phe252=
ENST00000646564.2:c.573_576delinsCTTT	ENSP00000495806.2:p.Phe191=
ENST00000155840.12:c.1017_1020delinsCTTT MANE Select	ENSP00000155840.2:p.Phe339=
ENST00000335475.6:c.636_639delinsCTTT	ENSP00000334497.5:p.Phe212=
ENST00000646564.1:c.219_222delinsCTTT	ENSP00000495806.1:p.Phe73=
ENST00000155840.9:c.1017_1020delinsCTTT	ENSP00000155840.2:p.Phe339=
ENST00000335475.5:c.636_639delinsCTTT	ENSP00000334497.5:p.Phe212=
NM_000218.2:c.1017_1020delinsCTTT , LRG_287t1:c.1017_1020delinsCTTT	NP_000209.2:p.Phe339=
NM_181798.1:c.636_639delinsCTTT , LRG_287t2:c.636_639delinsCTTT	NP_861463.1:p.Phe212=
NM_000218.3:c.1017_1020delinsCTTT MANE Select	NP_000209.2:p.Phe339=