Canonical Allele Identifier: CA1948159910
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444716_2444734delinsCGGGCGGGGGTGGGGGTGG , CM000673.2:g.2444716_2444734delinsCGGGCGGGGGTGGGGGTGG GRCh38
NC_000011.9:g.2465946_2465964delinsCGGGCGGGGGTGGGGGTGG , CM000673.1:g.2465946_2465964delinsCGGGCGGGGGTGGGGGTGG GRCh37
NC_000011.8:g.2422522_2422540delinsCGGGCGGGGGTGGGGGTGG NCBI36
NG_008935.1:g.4726_4744delinsCGGGCGGGGGTGGGGGTGG , LRG_287:g.4726_4744delinsCGGGCGGGGGTGGGGGTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+8_23+26delinsCGGGCGGGGGTGGGGGTGG ENSP00000434560.2:n.23+8_23+26delinsCGGGCGGGGGTGGGGGTGG
ENST00000496887.6:c.23+8_23+26delinsCGGGCGGGGGTGGGGGTGG ENSP00000434560.1:n.23+8_23+26delinsCGGGCGGGGGTGGGGGTGG