Canonical Allele Identifier: CA1948159929
Gene: KCNQ1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444720_2444726delinsCGGGGGT , CM000673.2:g.2444720_2444726delinsCGGGGGT GRCh38
NC_000011.9:g.2465950_2465956delinsCGGGGGT , CM000673.1:g.2465950_2465956delinsCGGGGGT GRCh37
NC_000011.8:g.2422526_2422532delinsCGGGGGT NCBI36
NG_008935.1:g.4730_4736delinsCGGGGGT , LRG_287:g.4730_4736delinsCGGGGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+12_23+18delinsCGGGGGT ENSP00000434560.2:n.23+12_23+18delinsCGGGGGT
ENST00000496887.6:c.23+12_23+18delinsCGGGGGT ENSP00000434560.1:n.23+12_23+18delinsCGGGGGT
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