Canonical Allele Identifier: CA1948159887
Gene: KCNQ1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444710_2444711delinsTG , CM000673.2:g.2444710_2444711delinsTG GRCh38
NC_000011.9:g.2465940_2465941delinsTG , CM000673.1:g.2465940_2465941delinsTG GRCh37
NC_000011.8:g.2422516_2422517delinsTG NCBI36
NG_008935.1:g.4720_4721delinsTG , LRG_287:g.4720_4721delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+2_23+3delinsTG ENSP00000434560.2:n.23+2_23+3delinsTG
ENST00000496887.6:c.23+2_23+3delinsTG ENSP00000434560.1:n.23+2_23+3delinsTG
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