Linked Data
dbSNP Id:
rs1910936506
gnomAD v3:
16-83730657-TTGGTTTG-T
gnomAD v4:
16-83730657-TTGGTTTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83730664_83730670del , CM000678.2:g.83730664_83730670del | GRCh38 |
| NC_000016.9:g.83764269_83764275del , CM000678.1:g.83764269_83764275del | GRCh37 |
| NC_000016.8:g.82321770_82321776del | NCBI36 |
| NG_052819.1:g.1108871_1108877del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690173.1:n.97+11257_97+11263del (HSBP1) | ||
| ENST00000693379.1:n.97+11257_97+11263del (HSBP1) | ||
| ENST00000693758.1:n.97+11257_97+11263del (HSBP1) | ||
| ENST00000567109.6:c.1539-17444_1539-17438del (CDH13) MANE Select | ENSP00000479395.1:n.1539-17444_1539-17438del | |
| ENST00000268613.14:c.1680-17444_1680-17438del (CDH13) | ENSP00000268613.10:n.1680-17444_1680-17438del | |
| ENST00000428848.7:c.1422-17444_1422-17438del (CDH13) | ENSP00000394557.3:n.1422-17444_1422-17438del | |
| ENST00000539548.6:c.*1171-17444_*1171-17438del (CDH13) | ENSP00000442225.2:n.*1171-17444_*1171-17438del | |
| ENST00000566620.5:c.1503-17444_1503-17438del (CDH13) | ENSP00000454435.3:n.1503-17444_1503-17438del | |
| ENST00000567109.5:c.1539-17444_1539-17438del (CDH13) | ENSP00000479395.1:n.1539-17444_1539-17438del | |
| ENST00000615627.1:c.459-17444_459-17438del (CDH13) | ENSP00000482651.1:n.459-17444_459-17438del | |
| ENST00000622885.4:c.1383-17444_1383-17438del (CDH13) | ENSP00000483719.1:n.1383-17444_1383-17438del | |
| NM_001220488.1:c.1680-17444_1680-17438del (CDH13) | NP_001207417.1:n.1680-17444_1680-17438del | |
| NM_001220489.1:c.1422-17444_1422-17438del (CDH13) | NP_001207418.1:n.1422-17444_1422-17438del | |
| NM_001220490.1:c.777-17444_777-17438del (CDH13) | NP_001207419.1:n.777-17444_777-17438del | |
| NM_001257.4:c.1539-17444_1539-17438del (CDH13) | NP_001248.1:n.1539-17444_1539-17438del | |
| XM_011522804.1:c.1236-17444_1236-17438del (CDH13) | XP_011521106.1:n.1236-17444_1236-17438del | |
| XM_011522804.3:c.1236-17444_1236-17438del (CDH13) | XP_011521106.1:n.1236-17444_1236-17438del | |
| XR_001752382.2:n.261_267del | ||
| XR_933801.3:n.261_267del | ||
| NM_001257.5:c.1539-17444_1539-17438del (CDH13) MANE Select | NP_001248.1:n.1539-17444_1539-17438del | |
| NM_001220488.2:c.1680-17444_1680-17438del (CDH13) | NP_001207417.1:n.1680-17444_1680-17438del | |
| NM_001220489.2:c.1422-17444_1422-17438del (CDH13) | NP_001207418.1:n.1422-17444_1422-17438del | |
| NM_001220490.2:c.777-17444_777-17438del (CDH13) | NP_001207419.1:n.777-17444_777-17438del |