Linked Data
ClinVar Variation Id:
372870
ClinVar RCV Id:
RCV000413295
dbSNP Id:
rs1057518037
gnomAD v4:
11-121137844-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121137847del , CM000673.2:g.121137847del | GRCh38 |
| NC_000011.9:g.121008556del , CM000673.1:g.121008556del | GRCh37 |
| NC_000011.8:g.120513766del | NCBI36 |
| NG_011633.1:g.40182del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392793.6:c.3368del (TECTA) MANE Select | ENSP00000376543.1:p.Pro1123HisfsTer? | |
| ENST00000642222.1:c.3368del (TECTA) | ENSP00000493855.1:p.Pro1123HisfsTer? | |
| ENST00000645008.1:c.675del (TECTA) | ||
| ENST00000264037.2:c.3368del (TECTA) | ENSP00000264037.2:p.Pro1123HisfsTer? | |
| ENST00000392793.5:c.3368del (TECTA) | ENSP00000376543.1:p.Pro1123HisfsTer? | |
| NM_005422.2:c.3368del (TECTA) | NP_005413.2:p.Pro1123HisfsTer? | |
| NM_001378761.1:c.4325del (TBCEL-TECTA) | NP_001365690.1:p.Pro1442HisfsTer? | |
| NM_005422.4:c.3368del (TECTA) MANE Select | NP_005413.2:p.Pro1123HisfsTer? |