Linked Data
ClinVar Variation Id:
1605182
ClinVar RCV Id:
RCV003025465
dbSNP Id:
rs2140238030
gnomAD v4:
14-75963304-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75963307del , CM000676.2:g.75963307del | GRCh38 |
| NC_000014.8:g.76429650del , CM000676.1:g.76429650del | GRCh37 |
| NC_000014.7:g.75499403del | NCBI36 |
| NG_011715.1:g.23445del , LRG_399:g.23445del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000238682.8:c.926+11del (TGFB3) MANE Select | ENSP00000238682.3:n.926+11del | |
| ENST00000556674.2:c.926+11del (TGFB3) | ENSP00000502685.1:n.926+11del | |
| ENST00000238682.7:c.926+11del (TGFB3) | ENSP00000238682.3:n.926+11del | |
| ENST00000554980.5:n.1307+11del (TGFB3) | ||
| ENST00000555677.5:n.90-25578del (IFT43) | ||
| ENST00000556285.1:c.*7del (TGFB3) | ENSP00000451110.1:n.*7del | |
| ENST00000557493.1:n.392+11del (TGFB3) | ||
| NM_003239.3:c.926+11del (TGFB3) | NP_003230.1:n.926+11del | |
| XM_005268028.1:c.926+11del (TGFB3) | XP_005268085.1:n.926+11del | |
| NM_001329938.1:c.*7del (TGFB3) | NP_001316867.1:n.*7del | |
| NM_001329939.1:c.926+11del (TGFB3) | NP_001316868.1:n.926+11del | |
| NM_003239.4:c.926+11del (TGFB3) | NP_003230.1:n.926+11del | |
| NM_001329938.2:c.*7del (TGFB3) | NP_001316867.1:n.*7del | |
| NM_001329939.2:c.926+11del (TGFB3) | NP_001316868.1:n.926+11del | |
| NM_003239.5:c.926+11del (TGFB3) MANE Select | NP_003230.1:n.926+11del |