Canonical Allele Identifier: CA2611999361
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2444844-CGGGCAGGGACGCCCTGTGCGCGCCGGACCGGCGGGGGCGGGGCGTGCAGGCGGGGGCG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444850_2444907del , CM000673.2:g.2444850_2444907del GRCh38
NC_000011.9:g.2466080_2466137del , CM000673.1:g.2466080_2466137del GRCh37
NC_000011.8:g.2422656_2422713del NCBI36
NG_008935.1:g.4860_4917del , LRG_287:g.4860_4917del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+142_23+199del ENSP00000434560.2:n.23+142_23+199del
ENST00000496887.6:c.23+142_23+199del ENSP00000434560.1:n.23+142_23+199del
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