Linked Data
dbSNP Id:
rs1306831163
gnomAD v2:
11-121032643-TC-T
gnomAD v3:
11-121161934-TC-T
gnomAD v4:
11-121161934-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121161935del , CM000673.2:g.121161935del | GRCh38 |
| NC_000011.9:g.121032644del , CM000673.1:g.121032644del | GRCh37 |
| NC_000011.8:g.120537854del | NCBI36 |
| NG_011633.1:g.64270del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.4977-140del (TECTA) MANE Select | ENSP00000376543.1:n.4977-140del | |
| ENST00000642222.1:c.4977-155del (TECTA) | ENSP00000493855.1:n.4977-155del | |
| ENST00000645008.1:c.2284-155del (TECTA) | ||
| ENST00000646278.1:n.913-155del (TECTA) | ||
| ENST00000264037.2:c.4977-140del (TECTA) | ENSP00000264037.2:n.4977-140del | |
| ENST00000392793.5:c.4977-140del (TECTA) | ENSP00000376543.1:n.4977-140del | |
| NM_005422.2:c.4977-140del (TECTA) | NP_005413.2:n.4977-140del | |
| NM_001378761.1:c.5934-155del (TBCEL-TECTA) | NP_001365690.1:n.5934-155del | |
| NM_005422.4:c.4977-140del (TECTA) MANE Select | NP_005413.2:n.4977-140del |