Canonical Allele Identifier: CA1948160852
Gene: KCNQ1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445170_2445171delinsGC , CM000673.2:g.2445170_2445171delinsGC GRCh38
NC_000011.9:g.2466400_2466401delinsGC , CM000673.1:g.2466400_2466401delinsGC GRCh37
NC_000011.8:g.2422976_2422977delinsGC NCBI36
NG_008935.1:g.5180_5181delinsGC , LRG_287:g.5180_5181delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.24-213_24-212delinsGC ENSP00000434560.2:n.24-213_24-212delinsGC
ENST00000646564.2:c.72_73delinsGC ENSP00000495806.2:p.Arg24=
ENST00000155840.12:c.72_73delinsGC MANE Select ENSP00000155840.2:p.Arg24=
ENST00000155840.9:c.72_73delinsGC ENSP00000155840.2:p.Arg24=
ENST00000496887.6:c.24-213_24-212delinsGC ENSP00000434560.1:n.24-213_24-212delinsGC
NM_000218.2:c.72_73delinsGC , LRG_287t1:c.72_73delinsGC NP_000209.2:p.Arg24=
NM_000218.3:c.72_73delinsGC MANE Select NP_000209.2:p.Arg24=
Search 100 bp 5'
Search 100 bp 3'