Canonical Allele Identifier: CA2612012048
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 11-2848561-CAGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848564_2848566del , CM000673.2:g.2848564_2848566del GRCh38
NC_000011.9:g.2869794_2869796del , CM000673.1:g.2869794_2869796del GRCh37
NC_000011.8:g.2826370_2826372del NCBI36
NG_008935.1:g.408574_408576del , LRG_287:g.408574_408576del

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.*561_*563del (KCNQ1) ENSP00000434560.2:n.*561_*563del
ENST00000155840.12:c.*561_*563del (KCNQ1) MANE Select ENSP00000155840.2:n.*561_*563del
ENST00000335475.6:c.*561_*563del (KCNQ1) ENSP00000334497.5:n.*561_*563del
ENST00000155840.9:c.*561_*563del (KCNQ1) ENSP00000155840.2:n.*561_*563del
NM_000218.2:c.*561_*563del , LRG_287t1:c.*561_*563del (KCNQ1) NP_000209.2:n.*561_*563del
NM_181798.1:c.*561_*563del , LRG_287t2:c.*561_*563del (KCNQ1) NP_861463.1:n.*561_*563del
NR_130721.1:n.778-8122_778-8120del (KCNQ1-AS1)
NM_000218.3:c.*561_*563del (KCNQ1) MANE Select NP_000209.2:n.*561_*563del
Search 100 bp 5'
Search 100 bp 3'