Canonical Allele Identifier: CA2612000022
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2445294-T-TCCCCGGCCGCGCCCGCCGCGC
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445299_2445319dup , CM000673.2:g.2445299_2445319dup GRCh38
NC_000011.9:g.2466529_2466549dup , CM000673.1:g.2466529_2466549dup GRCh37
NC_000011.8:g.2423105_2423125dup NCBI36
NG_008935.1:g.5309_5329dup , LRG_287:g.5309_5329dup

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-84_24-64dup ENSP00000434560.2:n.24-84_24-64dup
ENST00000646564.2:c.201_221dup ENSP00000495806.2:p.Pro74_Val75insAlaAlaP...
ENST00000155840.12:c.201_221dup MANE Select ENSP00000155840.2:p.Pro74_Val75insAlaAlaP...
ENST00000155840.9:c.201_221dup ENSP00000155840.2:p.Pro74_Val75insAlaAlaP...
ENST00000496887.6:c.24-84_24-64dup ENSP00000434560.1:n.24-84_24-64dup
NM_000218.2:c.201_221dup , LRG_287t1:c.201_221dup NP_000209.2:p.Pro74_Val75insAlaAlaProAlaA...
NM_000218.3:c.201_221dup MANE Select NP_000209.2:p.Pro74_Val75insAlaAlaProAlaA...
Search 100 bp 5'
Search 100 bp 3'