Canonical Allele Identifier: CA2611999399
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2444896-GGGGGC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444902_2444906del , CM000673.2:g.2444902_2444906del GRCh38
NC_000011.9:g.2466132_2466136del , CM000673.1:g.2466132_2466136del GRCh37
NC_000011.8:g.2422708_2422712del NCBI36
NG_008935.1:g.4912_4916del , LRG_287:g.4912_4916del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+194_23+198del ENSP00000434560.2:n.23+194_23+198del
ENST00000496887.6:c.23+194_23+198del ENSP00000434560.1:n.23+194_23+198del
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