Linked Data
ClinVar Variation Id:
410268
ClinVar RCV Id:
RCV002526425
dbSNP Id:
rs1060502826
gnomAD v2:
14-76429700-ACC-A
gnomAD v4:
14-75963357-ACC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75963362_75963363del , CM000676.2:g.75963362_75963363del | GRCh38 |
| NC_000014.8:g.76429705_76429706del , CM000676.1:g.76429705_76429706del | GRCh37 |
| NC_000014.7:g.75499458_75499459del | NCBI36 |
| NG_011715.1:g.23391_23392del , LRG_399:g.23391_23392del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000238682.8:c.883_884del (TGFB3) MANE Select | ENSP00000238682.3:p.Gly295SerfsTer28 | |
| ENST00000556674.2:c.883_884del (TGFB3) | ENSP00000502685.1:p.Gly295SerfsTer28 | |
| ENST00000238682.7:c.883_884del (TGFB3) | ENSP00000238682.3:p.Gly295SerfsTer28 | |
| ENST00000554980.5:n.1264_1265del (TGFB3) | ||
| ENST00000555677.5:n.90-25523_90-25522del (IFT43) | ||
| ENST00000556285.1:c.883_884del (TGFB3) | ENSP00000451110.1:p.Gly295SerfsTer? | |
| ENST00000557493.1:n.349_350del (TGFB3) | ||
| NM_003239.3:c.883_884del (TGFB3) | NP_003230.1:p.Gly295SerfsTer28 | |
| XM_005268028.1:c.883_884del (TGFB3) | XP_005268085.1:p.Gly295SerfsTer28 | |
| NM_001329938.1:c.883_884del (TGFB3) | NP_001316867.1:p.Gly295SerfsTer? | |
| NM_001329939.1:c.883_884del (TGFB3) | NP_001316868.1:p.Gly295SerfsTer28 | |
| NM_003239.4:c.883_884del (TGFB3) | NP_003230.1:p.Gly295SerfsTer28 | |
| NM_001329938.2:c.883_884del (TGFB3) | NP_001316867.1:p.Gly295SerfsTer? | |
| NM_001329939.2:c.883_884del (TGFB3) | NP_001316868.1:p.Gly295SerfsTer28 | |
| NM_003239.5:c.883_884del (TGFB3) MANE Select | NP_003230.1:p.Gly295SerfsTer28 |