ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868897_240868898delinsTT , CM000664.2:g.240868897_240868898delinsTT | GRCh38 |
| NC_000002.11:g.241808314_241808315delinsTT , CM000664.1:g.241808314_241808315delinsTT | GRCh37 |
| NC_000002.10:g.241456987_241456988delinsTT | NCBI36 |
| NG_008005.1:g.5153_5154delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.32_33delinsTT MANE Select | ENSP00000302620.3:p.Pro11Leu | |
| ENST00000307503.3:c.32_33delinsTT | ENSP00000302620.3:p.Pro11Leu | |
| ENST00000472436.1:n.52_53delinsTT | ||
| NM_000030.2:c.32_33delinsTT | NP_000021.1:p.Pro11Leu | |
| XR_924060.1:n.405+1335_405+1336delinsAA | ||
| NM_000030.3:c.32_33delinsTT MANE Select | NP_000021.1:p.Pro11Leu |