Canonical Allele Identifier: CA2611999130
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2444662-AGGGGGCGGGGCCAAGCGGGATAGATGACACGAGCGGGGCTAAGCAGGTGGGCTCGGGCGGGGGTGGGGGT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444673_2444742del , CM000673.2:g.2444673_2444742del GRCh38
NC_000011.9:g.2465903_2465972del , CM000673.1:g.2465903_2465972del GRCh37
NC_000011.8:g.2422479_2422548del NCBI36
NG_008935.1:g.4683_4752del , LRG_287:g.4683_4752del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.-13_23+34del
Search 100 bp 5'
Search 100 bp 3'