Canonical Allele Identifier: CA1948225074

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583526_2583529delinsCCTT , CM000673.2:g.2583526_2583529delinsCCTT	GRCh38
NC_000011.9:g.2604756_2604759delinsCCTT , CM000673.1:g.2604756_2604759delinsCCTT	GRCh37
NC_000011.8:g.2561332_2561335delinsCCTT	NCBI36
NG_008935.1:g.143536_143539delinsCCTT , LRG_287:g.143536_143539delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.752_755delinsCCTT	ENSP00000434560.2:p.Ser251=
ENST00000646564.2:c.569_572delinsCCTT	ENSP00000495806.2:p.Ser190=
ENST00000155840.12:c.1013_1016delinsCCTT MANE Select	ENSP00000155840.2:p.Ser338=
ENST00000335475.6:c.632_635delinsCCTT	ENSP00000334497.5:p.Ser211=
ENST00000646564.1:c.215_218delinsCCTT	ENSP00000495806.1:p.Ser72=
ENST00000155840.9:c.1013_1016delinsCCTT	ENSP00000155840.2:p.Ser338=
ENST00000335475.5:c.632_635delinsCCTT	ENSP00000334497.5:p.Ser211=
NM_000218.2:c.1013_1016delinsCCTT , LRG_287t1:c.1013_1016delinsCCTT	NP_000209.2:p.Ser338=
NM_181798.1:c.632_635delinsCCTT , LRG_287t2:c.632_635delinsCCTT	NP_861463.1:p.Ser211=
NM_000218.3:c.1013_1016delinsCCTT MANE Select	NP_000209.2:p.Ser338=