Canonical Allele Identifier: CA1948350093
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848655_2848656delinsGC , CM000673.2:g.2848655_2848656delinsGC GRCh38
NC_000011.9:g.2869885_2869886delinsGC , CM000673.1:g.2869885_2869886delinsGC GRCh37
NC_000011.8:g.2826461_2826462delinsGC NCBI36
NG_008935.1:g.408665_408666delinsGC , LRG_287:g.408665_408666delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*652_*653delinsGC (KCNQ1) ENSP00000434560.2:n.*652_*653delinsGC
ENST00000155840.12:c.*652_*653delinsGC (KCNQ1) MANE Select ENSP00000155840.2:n.*652_*653delinsGC
ENST00000335475.6:c.*652_*653delinsGC (KCNQ1) ENSP00000334497.5:n.*652_*653delinsGC
ENST00000155840.9:c.*652_*653delinsGC (KCNQ1) ENSP00000155840.2:n.*652_*653delinsGC
NM_000218.2:c.*652_*653delinsGC , LRG_287t1:c.*652_*653delinsGC (KCNQ1) NP_000209.2:n.*652_*653delinsGC
NM_181798.1:c.*652_*653delinsGC , LRG_287t2:c.*652_*653delinsGC (KCNQ1) NP_861463.1:n.*652_*653delinsGC
NR_130721.1:n.778-8214_778-8213delinsGC (KCNQ1-AS1)
NM_000218.3:c.*652_*653delinsGC (KCNQ1) MANE Select NP_000209.2:n.*652_*653delinsGC
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