Canonical Allele Identifier: CA2790193746
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445061del , CM000673.2:g.2445061del GRCh38
NC_000011.9:g.2466291del , CM000673.1:g.2466291del GRCh37
NC_000011.8:g.2422867del NCBI36
NG_008935.1:g.5071del , LRG_287:g.5071del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.24-322del ENSP00000434560.2:n.24-322del
ENST00000646564.2:c.-38del ENSP00000495806.2:n.-38del
ENST00000155840.12:c.-38del MANE Select ENSP00000155840.2:n.-38del
ENST00000155840.9:c.-38del ENSP00000155840.2:n.-38del
ENST00000496887.6:c.24-322del ENSP00000434560.1:n.24-322del
NM_000218.2:c.-38del , LRG_287t1:c.-38del NP_000209.2:n.-38del
NM_000218.3:c.-38del MANE Select NP_000209.2:n.-38del