Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2849008del , CM000673.2:g.2849008del | GRCh38 |
| NC_000011.9:g.2870238del , CM000673.1:g.2870238del | GRCh37 |
| NC_000011.8:g.2826814del | NCBI36 |
| NG_008935.1:g.409018del , LRG_287:g.409018del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000155840.12:c.*1005del (KCNQ1) MANE Select | ENSP00000155840.2:n.*1005del | |
| ENST00000155840.9:c.*1005del (KCNQ1) | ENSP00000155840.2:n.*1005del | |
| NM_000218.2:c.*1005del , LRG_287t1:c.*1005del (KCNQ1) | NP_000209.2:n.*1005del | |
| NM_181798.1:c.*1005del , LRG_287t2:c.*1005del (KCNQ1) | NP_861463.1:n.*1005del | |
| NR_130721.1:n.778-8566del (KCNQ1-AS1) | ||
| NM_000218.3:c.*1005del (KCNQ1) MANE Select | NP_000209.2:n.*1005del |