ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470671_49470672delinsCA , CM000672.2:g.49470671_49470672delinsCA | GRCh38 |
| NC_000010.10:g.50678717_50678718delinsCA , CM000672.1:g.50678717_50678718delinsCA | GRCh37 |
| NC_000010.9:g.50348723_50348724delinsCA | NCBI36 |
| NG_009442.1:g.73430_73431delinsTG , LRG_465:g.73430_73431delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3288_3289delinsTG MANE Select | ENSP00000348089.5:p.Met1097Val | |
| ENST00000679552.1:n.359_360delinsTG | ||
| ENST00000679871.1:n.434_435delinsTG | ||
| ENST00000679974.1:n.337_338delinsTG | ||
| ENST00000681632.1:n.4691_4692delinsTG | ||
| ENST00000681659.1:c.3129_3130delinsTG | ENSP00000505631.1:p.Met1044Val | |
| ENST00000355832.9:c.3288_3289delinsTG | ENSP00000348089.5:p.Met1097Val | |
| ENST00000623073.3:c.*1584_*1585delinsTG | ENSP00000485650.1:n.*1584_*1585delinsTG | |
| ENST00000623115.3:c.1398_1399delinsTG | ENSP00000485321.1:p.Met467Val | |
| ENST00000624341.3:c.1120_1121delinsTG | ||
| NM_000124.3:c.3288_3289delinsTG | NP_000115.1:p.Met1097Val | |
| XR_945953.1:n.243-894_243-893delinsCA | ||
| NM_001346440.1:c.3288_3289delinsTG | NP_001333369.1:p.Met1097Val | |
| NM_000124.4:c.3288_3289delinsTG MANE Select | NP_000115.1:p.Met1097Val | |
| NM_001346440.2:c.3288_3289delinsTG | NP_001333369.1:p.Met1097Val |