Canonical Allele Identifier: CA1948160515
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444995_2444996delinsCG , CM000673.2:g.2444995_2444996delinsCG GRCh38
NC_000011.9:g.2466225_2466226delinsCG , CM000673.1:g.2466225_2466226delinsCG GRCh37
NC_000011.8:g.2422801_2422802delinsCG NCBI36
NG_008935.1:g.5005_5006delinsCG , LRG_287:g.5005_5006delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+287_23+288delinsCG ENSP00000434560.2:n.23+287_23+288delinsCG
ENST00000155840.9:c.-104_-103delinsCG ENSP00000155840.2:n.-104_-103delinsCG
ENST00000496887.6:c.23+287_23+288delinsCG ENSP00000434560.1:n.23+287_23+288delinsCG
NM_000218.2:c.-104_-103delinsCG , LRG_287t1:c.-104_-103delinsCG NP_000209.2:n.-104_-103delinsCG