Canonical Allele Identifier: CA1948159991
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444735_2444747delinsGGGCGGGGGCGCA , CM000673.2:g.2444735_2444747delinsGGGCGGGGGCGCA GRCh38
NC_000011.9:g.2465965_2465977delinsGGGCGGGGGCGCA , CM000673.1:g.2465965_2465977delinsGGGCGGGGGCGCA GRCh37
NC_000011.8:g.2422541_2422553delinsGGGCGGGGGCGCA NCBI36
NG_008935.1:g.4745_4757delinsGGGCGGGGGCGCA , LRG_287:g.4745_4757delinsGGGCGGGGGCGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+27_23+39delinsGGGCGGGGGCGCA ENSP00000434560.2:n.23+27_23+39delinsGGGCGGGGGCGCA
ENST00000496887.6:c.23+27_23+39delinsGGGCGGGGGCGCA ENSP00000434560.1:n.23+27_23+39delinsGGGCGGGGGCGCA