Canonical Allele Identifier: CA2611999822
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2445113-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445114del , CM000673.2:g.2445114del GRCh38
NC_000011.9:g.2466344del , CM000673.1:g.2466344del GRCh37
NC_000011.8:g.2422920del NCBI36
NG_008935.1:g.5124del , LRG_287:g.5124del

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-269del ENSP00000434560.2:n.24-269del
ENST00000646564.2:c.16del ENSP00000495806.2:p.Ser6ProfsTer?
ENST00000155840.12:c.16del MANE Select ENSP00000155840.2:p.Ser6ProfsTer?
ENST00000155840.9:c.16del ENSP00000155840.2:p.Ser6ProfsTer?
ENST00000496887.6:c.24-269del ENSP00000434560.1:n.24-269del
NM_000218.2:c.16del , LRG_287t1:c.16del NP_000209.2:p.Ser6ProfsTer?
NM_000218.3:c.16del MANE Select NP_000209.2:p.Ser6ProfsTer?
Search 100 bp 5'
Search 100 bp 3'