Linked Data
dbSNP Id:
rs780591637
gnomAD v2:
14-91779649-C-CAGCAGCTTCTTATCCTTCTCG
gnomAD v4:
14-91313305-C-CAGCAGCTTCTTATCCTTCTCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91313309_91313329dup , CM000676.2:g.91313309_91313329dup | GRCh38 |
| NC_000014.8:g.91779653_91779673dup , CM000676.1:g.91779653_91779673dup | GRCh37 |
| NC_000014.7:g.90849406_90849426dup | NCBI36 |
| NG_033118.1:g.109519_109539dup | |
| NG_033118.2:g.109519_109539dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.2490_2510dup MANE Select | ENSP00000374507.6:p.Leu837_Glu838insGluLysAspLysLysLeuLeu | |
| ENST00000389857.10:c.2490_2510dup | ENSP00000374507.6:p.Leu837_Glu838insGluLysAspLysLysLeuLeu | |
| NM_001080414.3:c.2490_2510dup | NP_001073883.2:p.Leu837_Glu838insGluLysAspLysLysLeuLeu | |
| XM_005267691.3:c.2490_2510dup | XP_005267748.1:p.Leu837_Glu838insGluLysAspLysLysLeuLeu | |
| XM_011536796.1:c.2382_2402dup | XP_011535098.1:p.Leu801_Glu802insGluLysAspLysLysLeuLeu | |
| XR_429316.2:n.2618_2638dup | ||
| XR_943459.1:n.2618_2638dup | ||
| XM_005267691.5:c.2490_2510dup | XP_005267748.1:p.Leu837_Glu838insGluLysAspLysLysLeuLeu | |
| XM_011536796.2:c.2382_2402dup | XP_011535098.1:p.Leu801_Glu802insGluLysAspLysLysLeuLeu | |
| XM_017021335.2:c.2490_2510dup | XP_016876824.1:p.Leu837_Glu838insGluLysAspLysLysLeuLeu | |
| XM_017021337.2:c.2490_2510dup | XP_016876826.1:p.Leu837_Glu838insGluLysAspLysLysLeuLeu | |
| XR_429316.4:n.2616_2636dup | ||
| NM_001080414.4:c.2490_2510dup MANE Select | NP_001073883.2:p.Leu837_Glu838insGluLysAspLysLysLeuLeu |