Canonical Allele Identifier: CA2612000153
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2445342-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445344del , CM000673.2:g.2445344del GRCh38
NC_000011.9:g.2466574del , CM000673.1:g.2466574del GRCh37
NC_000011.8:g.2423150del NCBI36
NG_008935.1:g.5354del , LRG_287:g.5354del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.24-39del ENSP00000434560.2:n.24-39del
ENST00000646564.2:c.246del ENSP00000495806.2:p.Pro83ArgfsTer3
ENST00000155840.12:c.246del MANE Select ENSP00000155840.2:p.Pro83ArgfsTer3
ENST00000155840.9:c.246del ENSP00000155840.2:p.Pro83ArgfsTer3
ENST00000345015.4:n.23del
ENST00000496887.6:c.24-39del ENSP00000434560.1:n.24-39del
NM_000218.2:c.246del , LRG_287t1:c.246del NP_000209.2:p.Pro83ArgfsTer3
NM_000218.3:c.246del MANE Select NP_000209.2:p.Pro83ArgfsTer3
Search 100 bp 5'
Search 100 bp 3'