Canonical Allele Identifier: CA2612002353
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2583298-G-GA
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583298_2583299insA , CM000673.2:g.2583298_2583299insA GRCh38
NC_000011.9:g.2604528_2604529insA , CM000673.1:g.2604528_2604529insA GRCh37
NC_000011.8:g.2561104_2561105insA NCBI36
NG_008935.1:g.143308_143309insA , LRG_287:g.143308_143309insA

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.661-137_661-136insA ENSP00000434560.2:n.661-137_661-136insA
ENST00000646564.2:c.478-137_478-136insA ENSP00000495806.2:n.478-137_478-136insA
ENST00000155840.12:c.922-137_922-136insA MANE Select ENSP00000155840.2:n.922-137_922-136insA
ENST00000335475.6:c.541-137_541-136insA ENSP00000334497.5:n.541-137_541-136insA
ENST00000646564.1:c.124-137_124-136insA ENSP00000495806.1:n.124-137_124-136insA
ENST00000155840.9:c.922-137_922-136insA ENSP00000155840.2:n.922-137_922-136insA
ENST00000335475.5:c.541-137_541-136insA ENSP00000334497.5:n.541-137_541-136insA
NM_000218.2:c.922-137_922-136insA , LRG_287t1:c.922-137_922-136insA NP_000209.2:n.922-137_922-136insA
NM_181798.1:c.541-137_541-136insA , LRG_287t2:c.541-137_541-136insA NP_861463.1:n.541-137_541-136insA
NM_000218.3:c.922-137_922-136insA MANE Select NP_000209.2:n.922-137_922-136insA
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