Canonical Allele Identifier: CA1948350229
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848899_2848902delinsTGTG , CM000673.2:g.2848899_2848902delinsTGTG GRCh38
NC_000011.9:g.2870129_2870132delinsTGTG , CM000673.1:g.2870129_2870132delinsTGTG GRCh37
NC_000011.8:g.2826705_2826708delinsTGTG NCBI36
NG_008935.1:g.408909_408912delinsTGTG , LRG_287:g.408909_408912delinsTGTG

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.*896_*899delinsTGTG (KCNQ1) ENSP00000434560.2:n.*896_*899delinsTGTG
ENST00000155840.12:c.*896_*899delinsTGTG (KCNQ1) MANE Select ENSP00000155840.2:n.*896_*899delinsTGTG
ENST00000335475.6:c.*896_*899delinsTGTG (KCNQ1) ENSP00000334497.5:n.*896_*899delinsTGTG
ENST00000155840.9:c.*896_*899delinsTGTG (KCNQ1) ENSP00000155840.2:n.*896_*899delinsTGTG
NM_000218.2:c.*896_*899delinsTGTG , LRG_287t1:c.*896_*899delinsTGTG (KCNQ1) NP_000209.2:n.*896_*899delinsTGTG
NM_181798.1:c.*896_*899delinsTGTG , LRG_287t2:c.*896_*899delinsTGTG (KCNQ1) NP_861463.1:n.*896_*899delinsTGTG
NR_130721.1:n.778-8460_778-8457delinsCACA (KCNQ1-AS1)
NM_000218.3:c.*896_*899delinsTGTG (KCNQ1) MANE Select NP_000209.2:n.*896_*899delinsTGTG
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