Canonical Allele Identifier: CA1948160648
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445073_2445074delinsCG , CM000673.2:g.2445073_2445074delinsCG GRCh38
NC_000011.9:g.2466303_2466304delinsCG , CM000673.1:g.2466303_2466304delinsCG GRCh37
NC_000011.8:g.2422879_2422880delinsCG NCBI36
NG_008935.1:g.5083_5084delinsCG , LRG_287:g.5083_5084delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.24-310_24-309delinsCG ENSP00000434560.2:n.24-310_24-309delinsCG
ENST00000646564.2:c.-26_-25delinsCG ENSP00000495806.2:n.-26_-25delinsCG
ENST00000155840.12:c.-26_-25delinsCG MANE Select ENSP00000155840.2:n.-26_-25delinsCG
ENST00000155840.9:c.-26_-25delinsCG ENSP00000155840.2:n.-26_-25delinsCG
ENST00000496887.6:c.24-310_24-309delinsCG ENSP00000434560.1:n.24-310_24-309delinsCG
NM_000218.2:c.-26_-25delinsCG , LRG_287t1:c.-26_-25delinsCG NP_000209.2:n.-26_-25delinsCG
NM_000218.3:c.-26_-25delinsCG MANE Select NP_000209.2:n.-26_-25delinsCG