Canonical Allele Identifier: CA1948159905
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444715_2444716delinsTC , CM000673.2:g.2444715_2444716delinsTC GRCh38
NC_000011.9:g.2465945_2465946delinsTC , CM000673.1:g.2465945_2465946delinsTC GRCh37
NC_000011.8:g.2422521_2422522delinsTC NCBI36
NG_008935.1:g.4725_4726delinsTC , LRG_287:g.4725_4726delinsTC

Transcript Alleles

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