ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.100240452_100240453delinsCA , CM000670.2:g.100240452_100240453delinsCA | GRCh38 |
| NC_000008.10:g.101252680_101252681delinsCA , CM000670.1:g.101252680_101252681delinsCA | GRCh37 |
| NC_000008.9:g.101321856_101321857delinsCA | NCBI36 |
| NG_033834.1:g.87418_87419delinsCA | |
| NG_033834.2:g.87418_87419delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388798.7:c.2330_2331delinsCA MANE Select | ENSP00000373450.3:p.Met777Thr | |
| ENST00000251809.4:c.2330_2331delinsCA | ENSP00000251809.3:p.Met777Thr | |
| ENST00000388798.6:c.2330_2331delinsCA | ENSP00000373450.2:p.Met777Thr | |
| ENST00000519424.1:n.582_583delinsCA | ||
| NM_003114.4:c.2330_2331delinsCA | NP_003105.2:p.Met777Thr | |
| NM_172218.2:c.2330_2331delinsCA | NP_757367.1:p.Met777Thr | |
| XM_011517240.1:c.2177_2178delinsCA | XP_011515542.1:p.Met726Thr | |
| XM_011517241.1:c.2165_2166delinsCA | XP_011515543.1:p.Met722Thr | |
| XM_011517242.1:c.2330_2331delinsCA | XP_011515544.1:p.Met777Thr | |
| XM_011517243.1:c.2330_2331delinsCA | XP_011515545.1:p.Met777Thr | |
| XR_928449.1:n.88+1399_88+1400delinsTG | ||
| XM_011517240.2:c.2177_2178delinsCA | XP_011515542.1:p.Met726Thr | |
| XM_011517241.2:c.2165_2166delinsCA | XP_011515543.1:p.Met722Thr | |
| XM_011517242.2:c.2330_2331delinsCA | XP_011515544.1:p.Met777Thr | |
| XM_011517243.2:c.2330_2331delinsCA | XP_011515545.1:p.Met777Thr | |
| XM_017013754.1:c.2435_2436delinsCA | XP_016869243.1:p.Met812Thr | |
| XM_017013755.1:c.1994_1995delinsCA | XP_016869244.1:p.Met665Thr | |
| XR_001745580.1:n.2289_2290delinsCA | ||
| XR_001745581.1:n.2122_2123delinsCA | ||
| XR_001745582.1:n.2316_2317delinsCA | ||
| XR_928449.3:n.86+1399_86+1400delinsTG | ||
| NM_001374321.1:c.2330_2331delinsCA | NP_001361250.1:p.Met777Thr | |
| NM_003114.5:c.2330_2331delinsCA MANE Select | NP_003105.2:p.Met777Thr | |
| NM_172218.3:c.2330_2331delinsCA | NP_757367.1:p.Met777Thr |