Linked Data
dbSNP Id:
rs960749277
gnomAD v3:
11-2849000-T-TGGGCA
gnomAD v4:
11-2849000-T-TGGGCA
MyVariant Identifiers:
chr11:g.2870230_2870231insGGGCA (hg19)
chr11:g.2849000_2849001insGGGCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2849001_2849005dup , CM000673.2:g.2849001_2849005dup | GRCh38 |
| NC_000011.9:g.2870231_2870235dup , CM000673.1:g.2870231_2870235dup | GRCh37 |
| NC_000011.8:g.2826807_2826811dup | NCBI36 |
| NG_008935.1:g.409011_409015dup , LRG_287:g.409011_409015dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000155840.12:c.*998_*1002dup (KCNQ1) MANE Select | ENSP00000155840.2:n.*998_*1002dup | |
| ENST00000155840.9:c.*998_*1002dup (KCNQ1) | ENSP00000155840.2:n.*998_*1002dup | |
| NM_000218.2:c.*998_*1002dup , LRG_287t1:c.*998_*1002dup (KCNQ1) | NP_000209.2:n.*998_*1002dup | |
| NM_181798.1:c.*998_*1002dup , LRG_287t2:c.*998_*1002dup (KCNQ1) | NP_861463.1:n.*998_*1002dup | |
| NR_130721.1:n.778-8563_778-8559dup (KCNQ1-AS1) | ||
| NM_000218.3:c.*998_*1002dup (KCNQ1) MANE Select | NP_000209.2:n.*998_*1002dup |