Canonical Allele Identifier: CA2611999830
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2445114-T-TC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445118dup , CM000673.2:g.2445118dup GRCh38
NC_000011.9:g.2466348dup , CM000673.1:g.2466348dup GRCh37
NC_000011.8:g.2422924dup NCBI36
NG_008935.1:g.5128dup , LRG_287:g.5128dup

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-265dup ENSP00000434560.2:n.24-265dup
ENST00000646564.2:c.20dup ENSP00000495806.2:p.Pro8AlafsTer?
ENST00000155840.12:c.20dup MANE Select ENSP00000155840.2:p.Pro8AlafsTer?
ENST00000155840.9:c.20dup ENSP00000155840.2:p.Pro8AlafsTer?
ENST00000496887.6:c.24-265dup ENSP00000434560.1:n.24-265dup
NM_000218.2:c.20dup , LRG_287t1:c.20dup NP_000209.2:p.Pro8AlafsTer?
NM_000218.3:c.20dup MANE Select NP_000209.2:p.Pro8AlafsTer?
Search 100 bp 5'
Search 100 bp 3'