Canonical Allele Identifier: CA1948350156
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848770_2848774delinsGCAGC , CM000673.2:g.2848770_2848774delinsGCAGC GRCh38
NC_000011.9:g.2870000_2870004delinsGCAGC , CM000673.1:g.2870000_2870004delinsGCAGC GRCh37
NC_000011.8:g.2826576_2826580delinsGCAGC NCBI36
NG_008935.1:g.408780_408784delinsGCAGC , LRG_287:g.408780_408784delinsGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*767_*771delinsGCAGC (KCNQ1) ENSP00000434560.2:n.*767_*771delinsGCAGC
ENST00000155840.12:c.*767_*771delinsGCAGC (KCNQ1) MANE Select ENSP00000155840.2:n.*767_*771delinsGCAGC
ENST00000335475.6:c.*767_*771delinsGCAGC (KCNQ1) ENSP00000334497.5:n.*767_*771delinsGCAGC
ENST00000155840.9:c.*767_*771delinsGCAGC (KCNQ1) ENSP00000155840.2:n.*767_*771delinsGCAGC
NM_000218.2:c.*767_*771delinsGCAGC , LRG_287t1:c.*767_*771delinsGCAGC (KCNQ1) NP_000209.2:n.*767_*771delinsGCAGC
NM_181798.1:c.*767_*771delinsGCAGC , LRG_287t2:c.*767_*771delinsGCAGC (KCNQ1) NP_861463.1:n.*767_*771delinsGCAGC
NR_130721.1:n.778-8332_778-8328delinsGCTGC (KCNQ1-AS1)
NM_000218.3:c.*767_*771delinsGCAGC (KCNQ1) MANE Select NP_000209.2:n.*767_*771delinsGCAGC
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