Canonical Allele Identifier: CA2612012005
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 11-2848478-GGCC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848483_2848485del , CM000673.2:g.2848483_2848485del GRCh38
NC_000011.9:g.2869713_2869715del , CM000673.1:g.2869713_2869715del GRCh37
NC_000011.8:g.2826289_2826291del NCBI36
NG_008935.1:g.408493_408495del , LRG_287:g.408493_408495del

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.*480_*482del (KCNQ1) ENSP00000434560.2:n.*480_*482del
ENST00000155840.12:c.*480_*482del (KCNQ1) MANE Select ENSP00000155840.2:n.*480_*482del
ENST00000335475.6:c.*480_*482del (KCNQ1) ENSP00000334497.5:n.*480_*482del
ENST00000155840.9:c.*480_*482del (KCNQ1) ENSP00000155840.2:n.*480_*482del
ENST00000526095.1:n.1018_1020del (KCNQ1)
NM_000218.2:c.*480_*482del , LRG_287t1:c.*480_*482del (KCNQ1) NP_000209.2:n.*480_*482del
NM_181798.1:c.*480_*482del , LRG_287t2:c.*480_*482del (KCNQ1) NP_861463.1:n.*480_*482del
NR_130721.1:n.778-8039_778-8037del (KCNQ1-AS1)
NM_000218.3:c.*480_*482del (KCNQ1) MANE Select NP_000209.2:n.*480_*482del
Search 100 bp 5'
Search 100 bp 3'