Canonical Allele Identifier: CA1948350228
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848891_2848894delinsCAAT , CM000673.2:g.2848891_2848894delinsCAAT GRCh38
NC_000011.9:g.2870121_2870124delinsCAAT , CM000673.1:g.2870121_2870124delinsCAAT GRCh37
NC_000011.8:g.2826697_2826700delinsCAAT NCBI36
NG_008935.1:g.408901_408904delinsCAAT , LRG_287:g.408901_408904delinsCAAT

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.*888_*891delinsCAAT (KCNQ1) ENSP00000434560.2:n.*888_*891delinsCAAT
ENST00000155840.12:c.*888_*891delinsCAAT (KCNQ1) MANE Select ENSP00000155840.2:n.*888_*891delinsCAAT
ENST00000335475.6:c.*888_*891delinsCAAT (KCNQ1) ENSP00000334497.5:n.*888_*891delinsCAAT
ENST00000155840.9:c.*888_*891delinsCAAT (KCNQ1) ENSP00000155840.2:n.*888_*891delinsCAAT
NM_000218.2:c.*888_*891delinsCAAT , LRG_287t1:c.*888_*891delinsCAAT (KCNQ1) NP_000209.2:n.*888_*891delinsCAAT
NM_181798.1:c.*888_*891delinsCAAT , LRG_287t2:c.*888_*891delinsCAAT (KCNQ1) NP_861463.1:n.*888_*891delinsCAAT
NR_130721.1:n.778-8452_778-8449delinsATTG (KCNQ1-AS1)
NM_000218.3:c.*888_*891delinsCAAT (KCNQ1) MANE Select NP_000209.2:n.*888_*891delinsCAAT