Canonical Allele Identifier: CA2790193642
Gene: KCNQ1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444764_2444902del , CM000673.2:g.2444764_2444902del GRCh38
NC_000011.9:g.2465994_2466132del , CM000673.1:g.2465994_2466132del GRCh37
NC_000011.8:g.2422570_2422708del NCBI36
NG_008935.1:g.4774_4912del , LRG_287:g.4774_4912del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+56_23+194del ENSP00000434560.2:n.23+56_23+194del
ENST00000496887.6:c.23+56_23+194del ENSP00000434560.1:n.23+56_23+194del
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